{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q05586","secondaryAccessions":["A6NLK7","A6NLR1","C9K0X1","P35437","Q12867","Q12868","Q5VSF3","Q5VSF4","Q5VSF5","Q5VSF6","Q5VSF7","Q5VSF8","Q9UPF8","Q9UPF9"],"uniProtkbId":"NMDZ1_HUMAN","entryAudit":{"firstPublicDate":"1994-06-01","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"1994-06-01","entryVersion":263,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Glutamate receptor ionotropic, NMDA 1"},"shortNames":[{"value":"GluN1"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Glutamate [NMDA] receptor subunit zeta-1"}},{"fullName":{"value":"N-methyl-D-aspartate receptor subunit NR1"},"shortNames":[{"value":"NMD-R1"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7685113"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8406025"}],"value":"hNR1"}]}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:4584"}],"value":"GRIN1"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7679115"}],"value":"NMDAR1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35438"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28095420"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28228639"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38598639"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7679115"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7681588"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7685113"}],"value":"Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:21376300, PubMed:26875626, PubMed:26919761, PubMed:28126851, PubMed:28228639, PubMed:36959261, PubMed:7679115, PubMed:7681588, PubMed:7685113). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the long-term potentiation (LTP) (PubMed:26875626). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:21376300, PubMed:26875626, PubMed:26919761, PubMed:27164704, PubMed:28095420, PubMed:28105280, PubMed:28126851, PubMed:28228639, PubMed:36959261, PubMed:38538865, PubMed:7679115, PubMed:7681588, PubMed:7685113). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 or GluN3 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:26919761, PubMed:36309015, PubMed:38598639)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Ca(2+)(in) = Ca(2+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29671"},{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7679115"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7681588"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7685113"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Na(+)(in) = Na(+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:34963"},{"database":"ChEBI","id":"CHEBI:29101"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"K(+)(in) = K(+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29463"},{"database":"ChEBI","id":"CHEBI:29103"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35438"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7679115"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7681588"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7685113"}],"value":"NMDA glutamate receptor activity is inhibited by Mg2(+) in a voltage-dependent manner; Mg2(+)-induced blockade occurs only at negative potentials and decreases with membrane depolarization (PubMed:7679115, PubMed:7681588, PubMed:7685113). 7-chlorokynurenate (50 uM) or Zn2(+) (100 uM) partially inhibit the NMDA glutamate receptor activity, while acide 2-amino-5-phosphonovalerique(100 uM) almost completely blocked the NMDA glutamate receptor activity (PubMed:7679115, PubMed:7685113). Dizocilpine (1 uM) results in long lasting and almost complete block of the NMDA glutamate receptor activity (PubMed:7679115, PubMed:7685113)"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35438"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35439"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18849881"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27458189"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38598639"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7685113"}],"value":"Heterotetramer; the NMDAR subunits are modular and harbor tiered domains that function in concert to regulate opening and closing of the cation-selective ion channel pore (PubMed:36309015, PubMed:38598639). Forms heterotetrameric channels composed of two GluN1/zeta subunits (GRIN1), and two identical GluN2/epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) or GluN3 subunits (GRIN3A or GRIN3B) (in vitro) (PubMed:26875626, PubMed:26919761, PubMed:28105280, PubMed:28126851, PubMed:34186027, PubMed:36309015, PubMed:36959261, PubMed:7685113). Can also form heterotetrameric channels that contain at least two GluN1 subunits and at least two different GluN2 subunits (or a combination of one GluN2 and one GluN3 subunits) (in vitro) (PubMed:36309015). In vivo, the subunit composition may vary in function of the expression levels of the different subunits (By similarity). Found in a complex with GRIN2A or GRIN2B, GRIN3A and PPP2CB (By similarity). Found in a complex with GRIN2A or GRIN2B and GRIN3B (By similarity). Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (By similarity). Interacts with DLG4 and MPDZ. Interacts with LRFN1 and LRFN2 (By similarity). Interacts with MYZAP (PubMed:18849881). Found in a complex with DLG4 and PRR7 (By similarity). Found in a complex with GRIN2B and PRR7 (PubMed:27458189). Interacts with PRR7; the interaction is reduced following NMDA receptor activity (PubMed:27458189)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q05586","intActId":"EBI-998542"},"interactantTwo":{"uniProtKBAccession":"P05067","geneName":"APP","intActId":"EBI-77613"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586","intActId":"EBI-998542"},"interactantTwo":{"uniProtKBAccession":"P35637","geneName":"FUS","intActId":"EBI-400434"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-1","intActId":"EBI-27070564"},"interactantTwo":{"uniProtKBAccession":"Q12879-1","geneName":"GRIN2A","intActId":"EBI-27070593"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-1","intActId":"EBI-27070564"},"interactantTwo":{"uniProtKBAccession":"Q13224","geneName":"GRIN2B","intActId":"EBI-2256942"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q02410","geneName":"APBA1","intActId":"EBI-368690"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q99767","geneName":"APBA2","intActId":"EBI-81711"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q12959","geneName":"DLG1","intActId":"EBI-357481"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q92796","geneName":"DLG3","intActId":"EBI-80440"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"P78352","geneName":"DLG4","intActId":"EBI-80389"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q68DX3","geneName":"FRMPD2","intActId":"EBI-53993476"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"A4D2P6","geneName":"GRID2IP","intActId":"EBI-15893226"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q9Y3R0","geneName":"GRIP1","intActId":"EBI-5349621"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q9C0E4","geneName":"GRIP2","intActId":"EBI-949557"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q14005","geneName":"IL16","intActId":"EBI-2831580"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q8TBB1","geneName":"LNX1","intActId":"EBI-739832"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q8N448","geneName":"LNX2","intActId":"EBI-2340947"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q96QZ7","geneName":"MAGI1","intActId":"EBI-924464"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q86UL8","geneName":"MAGI2","intActId":"EBI-311035"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"O75970","geneName":"MPDZ","intActId":"EBI-821405"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q86UT5","geneName":"NHERF4","intActId":"EBI-8744528"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q8NI35","geneName":"PATJ","intActId":"EBI-724390"},"numberOfExperiments":9,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q5T2W1","geneName":"PDZK1","intActId":"EBI-349819"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q14160","geneName":"SCRIB","intActId":"EBI-357345"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q07157","geneName":"TJP1","intActId":"EBI-79553"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q9P202","geneName":"WHRN","intActId":"EBI-310886"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q05586-2","intActId":"EBI-8286218"},"interactantTwo":{"uniProtKBAccession":"Q62936","geneName":"Dlg3","intActId":"EBI-349596"},"numberOfExperiments":3,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35438"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35439"}],"value":"Synaptic cell membrane targeting is dependent of GRIN2B/GluN2B subunit (By similarity). Association with GRIN3A occurs in the endoplasmic reticulum (By similarity)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28095420"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28228639"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7685113"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35439"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35438"}],"value":"Postsynaptic cell membrane","id":"SL-0219"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35439"}],"value":"Postsynaptic density membrane","id":"SL-0520"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P35438"}],"value":"Synaptic cell membrane","id":"SL-0531"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"3"},"synonyms":[{"value":"Long"},{"value":"NR1-3"}],"isoformIds":["Q05586-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"1"},"synonyms":[{"value":"Short"},{"value":"NR1-1"}],"isoformIds":["Q05586-2"],"sequenceIds":["VSP_000137","VSP_000138"],"isoformSequenceStatus":"Described"},{"name":{"value":"2"},"synonyms":[{"value":"Medium"},{"value":"NR1-2"}],"isoformIds":["Q05586-3"],"sequenceIds":["VSP_000139"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q05586-4"],"sequenceIds":["VSP_011778","VSP_011779"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q05586-5"],"sequenceIds":["VSP_011777"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"isoformIds":["Q05586-6"],"sequenceIds":["VSP_011777","VSP_011778","VSP_011779"],"isoformSequenceStatus":"Described"},{"name":{"value":"7"},"isoformIds":["Q05586-7"],"sequenceIds":["VSP_011777","VSP_045464"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A1L8F5J9"}],"value":"A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"}],"value":"The extracellular N-terminal domain (NTD) is a site of allosteric regulation to modulate overall receptor function"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"}],"value":"The ligand-binding domain (LBD) binds to glycine (GluN1 and GluN3 subunits) and glutamate (GluN2 subunits) and control opening of the channel gate"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"}],"value":"The transmembrane domain (TMD) harbors the channel gate and pore"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8316301"}],"value":"NMDA is probably regulated by C-terminal phosphorylation of an isoform of GRIN1 by PKC (PubMed:8316301). Dephosphorylated on Ser-897 probably by protein phosphatase 2A (PPP2CB) (PubMed:8316301). Its phosphorylated state is influenced by the formation of the NMDAR-PPP2CB complex and the NMDAR channel activity (PubMed:8316301)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37142655"}],"value":"Ubiquitinated via 'Lys-48'-linked ubiquitin chains by the E3 ubiquitin ligase complex, at least composed of CUL3, KCTD13 and RBX1; leading to proteasomal degradation"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant","diseaseAccession":"DI-05176","acronym":"NDHMSD","description":"An autosomal dominant neurodevelopmental disorder characterized by severe intellectual disability and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients.","diseaseCrossReference":{"database":"MIM","id":"614254"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25167861"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25864721"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28095420"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28228639"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28389307"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive","diseaseAccession":"DI-05175","acronym":"NDHMSR","description":"An autosomal recessive neurodevelopmental disorder characterized by severe intellectual disability and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients.","diseaseCrossReference":{"database":"MIM","id":"617820"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28051072"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Developmental and epileptic encephalopathy 101","diseaseAccession":"DI-06373","acronym":"DEE101","description":"A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur.","diseaseCrossReference":{"database":"MIM","id":"619814"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34611970"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily"}],"commentType":"SIMILARITY"},{"commentType":"WEB RESOURCE","resourceName":"Wikipedia","resourceUrl":"https://en.wikipedia.org/wiki/NMDA_receptor","ftp":false,"note":"NMDA receptor entry"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":18,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Chain","location":{"start":{"value":19,"modifier":"EXACT"},"end":{"value":938,"modifier":"EXACT"}},"description":"Glutamate receptor ionotropic, NMDA 1","featureId":"PRO_0000011587"},{"type":"Topological domain","location":{"start":{"value":19,"modifier":"EXACT"},"end":{"value":559,"modifier":"EXACT"}},"description":"Extracellular","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Transmembrane","location":{"start":{"value":560,"modifier":"EXACT"},"end":{"value":580,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Topological domain","location":{"start":{"value":581,"modifier":"EXACT"},"end":{"value":604,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Intramembrane","location":{"start":{"value":605,"modifier":"EXACT"},"end":{"value":615,"modifier":"EXACT"}},"description":"Discontinuously helical","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Topological domain","location":{"start":{"value":616,"modifier":"EXACT"},"end":{"value":627,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Transmembrane","location":{"start":{"value":628,"modifier":"EXACT"},"end":{"value":648,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Topological domain","location":{"start":{"value":649,"modifier":"EXACT"},"end":{"value":811,"modifier":"EXACT"}},"description":"Extracellular","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Transmembrane","location":{"start":{"value":812,"modifier":"EXACT"},"end":{"value":835,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Topological domain","location":{"start":{"value":836,"modifier":"EXACT"},"end":{"value":938,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}]},{"type":"Region","location":{"start":{"value":603,"modifier":"EXACT"},"end":{"value":624,"modifier":"EXACT"}},"description":"Pore-forming","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A1L8F5J9"}]},{"type":"Region","location":{"start":{"value":889,"modifier":"EXACT"},"end":{"value":938,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":916,"modifier":"EXACT"},"end":{"value":927,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Binding site","location":{"start":{"value":516,"modifier":"EXACT"},"end":{"value":516,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:57305"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"}],"ligand":{"name":"glycine","id":"ChEBI:CHEBI:57305"}},{"type":"Binding site","location":{"start":{"value":518,"modifier":"EXACT"},"end":{"value":518,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:57305"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"}],"ligand":{"name":"glycine","id":"ChEBI:CHEBI:57305"}},{"type":"Binding site","location":{"start":{"value":523,"modifier":"EXACT"},"end":{"value":523,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:57305"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFR"}],"ligand":{"name":"glycine","id":"ChEBI:CHEBI:57305"}},{"type":"Binding site","location":{"start":{"value":688,"modifier":"EXACT"},"end":{"value":688,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:57305"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"}],"ligand":{"name":"glycine","id":"ChEBI:CHEBI:57305"}},{"type":"Binding site","location":{"start":{"value":732,"modifier":"EXACT"},"end":{"value":732,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:57305"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"}],"ligand":{"name":"glycine","id":"ChEBI:CHEBI:57305"}},{"type":"Modified residue","location":{"start":{"value":889,"modifier":"EXACT"},"end":{"value":889,"modifier":"EXACT"}},"description":"Phosphoserine; by PKC","evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8316301"}]},{"type":"Modified residue","location":{"start":{"value":890,"modifier":"EXACT"},"end":{"value":890,"modifier":"EXACT"}},"description":"Phosphoserine; by PKC","evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8316301"}]},{"type":"Modified residue","location":{"start":{"value":896,"modifier":"EXACT"},"end":{"value":896,"modifier":"EXACT"}},"description":"Phosphoserine; by PKC","evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8316301"}]},{"type":"Modified residue","location":{"start":{"value":897,"modifier":"EXACT"},"end":{"value":897,"modifier":"EXACT"}},"description":"Phosphoserine; by PKC","evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8316301"}]},{"type":"Glycosylation","location":{"start":{"value":61,"modifier":"EXACT"},"end":{"value":61,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E98"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E99"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":203,"modifier":"EXACT"},"end":{"value":203,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFR"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":239,"modifier":"EXACT"},"end":{"value":239,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":276,"modifier":"EXACT"},"end":{"value":276,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":300,"modifier":"EXACT"},"end":{"value":300,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":350,"modifier":"EXACT"},"end":{"value":350,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":368,"modifier":"EXACT"},"end":{"value":368,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":440,"modifier":"EXACT"},"end":{"value":440,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":471,"modifier":"EXACT"},"end":{"value":471,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E98"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFR"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":491,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":674,"modifier":"EXACT"},"end":{"value":674,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":771,"modifier":"EXACT"},"end":{"value":771,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34186027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E98"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E99"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"}],"featureId":""},{"type":"Disulfide bond","location":{"start":{"value":79,"modifier":"EXACT"},"end":{"value":308,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E98"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"}]},{"type":"Disulfide bond","location":{"start":{"value":420,"modifier":"EXACT"},"end":{"value":454,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38598639"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E98"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E99"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8UUE"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"}]},{"type":"Disulfide bond","location":{"start":{"value":436,"modifier":"EXACT"},"end":{"value":455,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38598639"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E98"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E99"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8UUE"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"}]},{"type":"Disulfide bond","location":{"start":{"value":744,"modifier":"EXACT"},"end":{"value":798,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36309015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36959261"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E96"},{"evidenceCode":"ECO:0000312","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFR"}]},{"type":"Cross-link","location":{"start":{"value":860,"modifier":"EXACT"},"end":{"value":860,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37142655"}]},{"type":"Alternative sequence","location":{"start":{"value":190,"modifier":"EXACT"},"end":{"value":190,"modifier":"EXACT"}},"description":"in isoform 5, isoform 6 and isoform 7","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7926821"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9231706"}],"featureId":"VSP_011777","alternativeSequence":{"originalSequence":"K","alternativeSequences":["KSKKRNYENLDQLSYDNKRGPK"]}},{"type":"Alternative sequence","location":{"start":{"value":864,"modifier":"EXACT"},"end":{"value":938,"modifier":"EXACT"}},"description":"in isoform 7","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9231706"}],"featureId":"VSP_045464","alternativeSequence":{"originalSequence":"DRKSGRAEPDPKKKATFRAITSTLASSFKRRRSSKDTSTGGGRGALQNQKDTVLPRRAIEREEGQLQLCSRHRES","alternativeSequences":["QYHPTDITGPLNLSDPSVSTVV"]}},{"type":"Alternative sequence","location":{"start":{"value":864,"modifier":"EXACT"},"end":{"value":900,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8406025"}],"featureId":"VSP_000139","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":864,"modifier":"EXACT"},"end":{"value":885,"modifier":"EXACT"}},"description":"in isoform 1","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7685113"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8406025"}],"featureId":"VSP_000137","alternativeSequence":{"originalSequence":"DRKSGRAEPDPKKKATFRAITS","alternativeSequences":["QYHPTDITGPLNLSDPSVSTVV"]}},{"type":"Alternative sequence","location":{"start":{"value":886,"modifier":"EXACT"},"end":{"value":938,"modifier":"EXACT"}},"description":"in isoform 1","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7685113"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8406025"}],"featureId":"VSP_000138","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":901,"modifier":"EXACT"},"end":{"value":922,"modifier":"EXACT"}},"description":"in isoform 4 and isoform 6","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7926821"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9231706"}],"featureId":"VSP_011778","alternativeSequence":{"originalSequence":"STGGGRGALQNQKDTVLPRRAI","alternativeSequences":["QYHPTDITGPLNLSDPSVSTVV"]}},{"type":"Alternative sequence","location":{"start":{"value":923,"modifier":"EXACT"},"end":{"value":938,"modifier":"EXACT"}},"description":"in isoform 4 and isoform 6","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7926821"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9231706"}],"featureId":"VSP_011779","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":217,"modifier":"EXACT"},"end":{"value":217,"modifier":"EXACT"}},"description":"in NDHMSR; changed glutamate-gated calcium ion channel activity; increased inhibition by zinc; dbSNP:rs200777850","featureCrossReferences":[{"database":"dbSNP","id":"rs200777850"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_079984","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":227,"modifier":"EXACT"},"end":{"value":227,"modifier":"EXACT"}},"description":"in NDHMSR; uncertain significance; dbSNP:rs869312865","featureCrossReferences":[{"database":"dbSNP","id":"rs869312865"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28051072"}],"featureId":"VAR_079985","alternativeSequence":{"originalSequence":"D","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":306,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"found in a patient with schizophrenia; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22833210"}],"featureId":"VAR_079986","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":349,"modifier":"EXACT"},"end":{"value":349,"modifier":"EXACT"}},"description":"in dbSNP:rs148008303","featureCrossReferences":[{"database":"dbSNP","id":"rs148008303"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22833210"}],"featureId":"VAR_079987","alternativeSequence":{"originalSequence":"A","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":419,"modifier":"EXACT"},"end":{"value":419,"modifier":"EXACT"}},"description":"in dbSNP:rs763133592","featureCrossReferences":[{"database":"dbSNP","id":"rs763133592"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22833210"}],"featureId":"VAR_079988","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":540,"modifier":"EXACT"},"end":{"value":540,"modifier":"EXACT"}},"description":"in dbSNP:rs3181457","featureCrossReferences":[{"database":"dbSNP","id":"rs3181457"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9231706"}],"featureId":"VAR_049187","alternativeSequence":{"originalSequence":"I","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":552,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"in NDHMSD; changed localization to the cell membrane; decreased glutamate-gated calcium ion channel activity; dbSNP:rs1554770054","featureCrossReferences":[{"database":"dbSNP","id":"rs1554770054"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25864721"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28095420"}],"featureId":"VAR_079989","alternativeSequence":{"originalSequence":"D","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":556,"modifier":"EXACT"},"end":{"value":938,"modifier":"EXACT"}},"description":"in DEE101; loss of function in calcium ion transmembrane import into cytosol","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_079990","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":557,"modifier":"EXACT"},"end":{"value":557,"modifier":"EXACT"}},"description":"in NDHMSD; changed localization to the cell membrane; loss of glutamate-gated calcium ion channel activity; dbSNP:rs878853143","featureCrossReferences":[{"database":"dbSNP","id":"rs878853143"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25167861"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28095420"}],"featureId":"VAR_079991","alternativeSequence":{"originalSequence":"P","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":560,"modifier":"EXACT"},"end":{"value":560,"modifier":"EXACT"}},"description":"in NDHMSD; there is near abolition of the activity of the NMDA receptor in Xenopus oocytes; alters the 3-dimensional structure at the receptor's channel pore entrance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"}],"featureId":"VAR_066597","alternativeSequence":{"originalSequence":"S","alternativeSequences":["SS"]}},{"type":"Natural variant","location":{"start":{"value":618,"modifier":"EXACT"},"end":{"value":618,"modifier":"EXACT"}},"description":"in NDHMSD; loss of function in calcium ion transmembrane import into cytosol; dbSNP:rs1833614590","featureCrossReferences":[{"database":"dbSNP","id":"rs1833614590"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_079992","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":620,"modifier":"EXACT"},"end":{"value":620,"modifier":"EXACT"}},"description":"in NDHMSD; decreased localization to the plasma membrane of GRIN1/GRIN2BNMDA receptor complexes; changed glutamate-gated calcium ion channel activity; decreased activation by glutamate and glycine; decreased sensitivity to magnesium block; loss of function in calcium ion transmembrane import into cytosol; dbSNP:rs797045047","featureCrossReferences":[{"database":"dbSNP","id":"rs797045047"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28228639"}],"featureId":"VAR_079993","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":637,"modifier":"EXACT"},"end":{"value":637,"modifier":"EXACT"}},"description":"in NDHMSD; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089651","alternativeSequence":{"originalSequence":"A","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":637,"modifier":"EXACT"},"end":{"value":637,"modifier":"EXACT"}},"description":"in NDHMSD; uncertain significance; may affect glutamate-gated calcium ion channel activity; decreased sensitivity to magnesium block; dbSNP:rs1554770221","featureCrossReferences":[{"database":"dbSNP","id":"rs1554770221"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089652","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":638,"modifier":"EXACT"},"end":{"value":638,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; dbSNP:rs1393555703","featureCrossReferences":[{"database":"dbSNP","id":"rs1393555703"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089653","alternativeSequence":{"originalSequence":"G","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":638,"modifier":"EXACT"},"end":{"value":638,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 2-fold lower glutamate and glycine concentrations; decreased sensitivity to magnesium block; reduced localization to cell membrane","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089654","alternativeSequence":{"originalSequence":"G","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":641,"modifier":"EXACT"},"end":{"value":641,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; may affect glutamate-gated calcium ion channel activity; decreased sensitivity to magnesium block; dbSNP:rs1060500046","featureCrossReferences":[{"database":"dbSNP","id":"rs1060500046"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25864721"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_079994","alternativeSequence":{"originalSequence":"M","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":641,"modifier":"EXACT"},"end":{"value":641,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; dbSNP:rs2131299136","featureCrossReferences":[{"database":"dbSNP","id":"rs2131299136"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089655","alternativeSequence":{"originalSequence":"M","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":641,"modifier":"EXACT"},"end":{"value":641,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; dbSNP:rs2131299136","featureCrossReferences":[{"database":"dbSNP","id":"rs2131299136"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089656","alternativeSequence":{"originalSequence":"M","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":642,"modifier":"EXACT"},"end":{"value":642,"modifier":"EXACT"}},"description":"in NDHMSD; uncertain significance; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 2-fold higher glutamate and glycine concentrations","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089657","alternativeSequence":{"originalSequence":"I","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":643,"modifier":"EXACT"},"end":{"value":643,"modifier":"EXACT"}},"description":"in NDHMSD; uncertain significance; dbSNP:rs1554770243","featureCrossReferences":[{"database":"dbSNP","id":"rs1554770243"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089658","alternativeSequence":{"originalSequence":"I","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":645,"modifier":"EXACT"},"end":{"value":645,"modifier":"EXACT"}},"description":"in NDHMSD; uncertain significance; no effect on glutamate-gated calcium ion channel activity; dbSNP:rs1833621434","featureCrossReferences":[{"database":"dbSNP","id":"rs1833621434"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_079995","alternativeSequence":{"originalSequence":"A","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":647,"modifier":"EXACT"},"end":{"value":647,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; reduced localization to cell membrane; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 40-fold lower glutamate concentrations and 50-fold lower glycine concentrations","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089659","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":647,"modifier":"EXACT"},"end":{"value":647,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; decreased ion transmembrane transport; reduced localization to cell membrane; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 50-fold lower glutamate concentrations and 28-fold lower glycine concentrations","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_079996","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":650,"modifier":"EXACT"},"end":{"value":650,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 100-fold lower glutamate concentrations and 30-fold lower glycine concentrations; dbSNP:rs1131691590","featureCrossReferences":[{"database":"dbSNP","id":"rs1131691590"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089660","alternativeSequence":{"originalSequence":"N","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":650,"modifier":"EXACT"},"end":{"value":650,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 8-fold lower glutamate concentrations and 5-fold lower glycine concentrations; reduced localization to cell membrane; dbSNP:rs771610568","featureCrossReferences":[{"database":"dbSNP","id":"rs771610568"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25864721"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_079997","alternativeSequence":{"originalSequence":"N","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":652,"modifier":"EXACT"},"end":{"value":652,"modifier":"EXACT"}},"description":"in NDHMSD; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089661","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":653,"modifier":"EXACT"},"end":{"value":653,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 30-fold lower glutamate concentrations and 50-fold lower glycine concentrations","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089662","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":654,"modifier":"EXACT"},"end":{"value":654,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 13-fold lower glutamate concentrations and 9-fold lower glycine concentrations; dbSNP:rs1554770262","featureCrossReferences":[{"database":"dbSNP","id":"rs1554770262"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089663","alternativeSequence":{"originalSequence":"F","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":655,"modifier":"EXACT"},"end":{"value":655,"modifier":"EXACT"}},"description":"in NDHMSD; likely pathogenic; changed glutamate-gated calcium ion channel activity; mutant channels are activated at 10-fold lower glutamate concentrations and 13-fold lower glycine concentrations; dbSNP:rs1564363923","featureCrossReferences":[{"database":"dbSNP","id":"rs1564363923"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"featureId":"VAR_089664","alternativeSequence":{"originalSequence":"L","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":662,"modifier":"EXACT"},"end":{"value":662,"modifier":"EXACT"}},"description":"in NDHMSD; this mutation produces a significant increase in NMDA receptor-induced calcium currents; excessive calcium influx through NMDA receptor could lead to excitotoxic neuronal cell damage; dbSNP:rs387906635","featureCrossReferences":[{"database":"dbSNP","id":"rs387906635"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"}],"featureId":"VAR_066598","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":682,"modifier":"EXACT"},"end":{"value":682,"modifier":"EXACT"}},"description":"in dbSNP:rs1126448","featureCrossReferences":[{"database":"dbSNP","id":"rs1126448"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9231706"}],"featureId":"VAR_069057","alternativeSequence":{"originalSequence":"A","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":688,"modifier":"EXACT"},"end":{"value":688,"modifier":"EXACT"}},"description":"in NDHMSD; dbSNP:rs1833635820","featureCrossReferences":[{"database":"dbSNP","id":"rs1833635820"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28389307"}],"featureId":"VAR_079998","alternativeSequence":{"originalSequence":"S","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":815,"modifier":"EXACT"},"end":{"value":815,"modifier":"EXACT"}},"description":"in NDHMSD; loss of glutamate-gated calcium ion channel activity; dbSNP:rs797044925","featureCrossReferences":[{"database":"dbSNP","id":"rs797044925"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25864721"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_079999","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":815,"modifier":"EXACT"},"end":{"value":815,"modifier":"EXACT"}},"description":"in NDHMSD","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_080000","alternativeSequence":{"originalSequence":"G","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":817,"modifier":"EXACT"},"end":{"value":817,"modifier":"EXACT"}},"description":"in NDHMSD; decreased glutamate-gated calcium ion channel activity; dbSNP:rs1554770624","featureCrossReferences":[{"database":"dbSNP","id":"rs1554770624"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_080001","alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":827,"modifier":"EXACT"},"end":{"value":827,"modifier":"EXACT"}},"description":"in NDHMSD; loss of function in calcium ion transmembrane import into cytosol; dbSNP:rs1451230055","featureCrossReferences":[{"database":"dbSNP","id":"rs1451230055"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28389307"}],"featureId":"VAR_080002","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":844,"modifier":"EXACT"},"end":{"value":844,"modifier":"EXACT"}},"description":"in NDHMSD; no effect on glutamate-gated calcium ion channel activity; dbSNP:rs1554770667","featureCrossReferences":[{"database":"dbSNP","id":"rs1554770667"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27164704"}],"featureId":"VAR_080003","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Mutagenesis","location":{"start":{"value":642,"modifier":"EXACT"},"end":{"value":642,"modifier":"EXACT"}},"description":"Slight decrease in glutamate and glycine agonist potency; mutant channels are activated at 2-fold higher glutamate and glycine concentrations.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"alternativeSequence":{"originalSequence":"I","alternativeSequences":["L"]}},{"type":"Mutagenesis","location":{"start":{"value":644,"modifier":"EXACT"},"end":{"value":644,"modifier":"EXACT"}},"description":"Increase in glutamate and glycine agonist potency; mutant channels are activated lower glutamate and glycine concentrations.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"alternativeSequence":{"originalSequence":"V","alternativeSequences":["M"]}},{"type":"Mutagenesis","location":{"start":{"value":653,"modifier":"EXACT"},"end":{"value":653,"modifier":"EXACT"}},"description":"Increase in glutamate and glycine agonist potency; mutant channels are activated lower glutamate and glycine concentrations.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38538865"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["G"]}},{"type":"Mutagenesis","location":{"start":{"value":813,"modifier":"EXACT"},"end":{"value":813,"modifier":"EXACT"}},"description":"Slight decrease in glycine agonist potency; no effect on glutamate agonist potency.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28126851"}],"alternativeSequence":{"originalSequence":"M","alternativeSequences":["V"]}},{"type":"Mutagenesis","location":{"start":{"value":860,"modifier":"EXACT"},"end":{"value":860,"modifier":"EXACT"}},"description":"Complete loss of ubiquitination by KCTD13.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37142655"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":389,"modifier":"EXACT"}},"description":"in Ref. 8; AAB25917","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Sequence conflict","location":{"start":{"value":488,"modifier":"EXACT"},"end":{"value":488,"modifier":"EXACT"}},"description":"in Ref. 1; AAB59361","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Beta strand","location":{"start":{"value":26,"modifier":"EXACT"},"end":{"value":28,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":29,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9IYQ"}]},{"type":"Helix","location":{"start":{"value":36,"modifier":"EXACT"},"end":{"value":49,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Turn","location":{"start":{"value":53,"modifier":"EXACT"},"end":{"value":55,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"10FD"}]},{"type":"Beta strand","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":61,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":62,"modifier":"EXACT"},"end":{"value":65,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9IYQ"}]},{"type":"Beta strand","location":{"start":{"value":69,"modifier":"EXACT"},"end":{"value":71,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":72,"modifier":"EXACT"},"end":{"value":85,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":90,"modifier":"EXACT"},"end":{"value":92,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":96,"modifier":"EXACT"},"end":{"value":98,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOR"}]},{"type":"Beta strand","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":104,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":105,"modifier":"EXACT"},"end":{"value":113,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":118,"modifier":"EXACT"},"end":{"value":120,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":126,"modifier":"EXACT"},"end":{"value":129,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Turn","location":{"start":{"value":131,"modifier":"EXACT"},"end":{"value":133,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":134,"modifier":"EXACT"},"end":{"value":136,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOT"}]},{"type":"Beta strand","location":{"start":{"value":138,"modifier":"EXACT"},"end":{"value":141,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":144,"modifier":"EXACT"},"end":{"value":146,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":158,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":163,"modifier":"EXACT"},"end":{"value":170,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":171,"modifier":"EXACT"},"end":{"value":184,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Turn","location":{"start":{"value":185,"modifier":"EXACT"},"end":{"value":188,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":192,"modifier":"EXACT"},"end":{"value":197,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"10FD"}]},{"type":"Helix","location":{"start":{"value":205,"modifier":"EXACT"},"end":{"value":210,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":213,"modifier":"EXACT"},"end":{"value":216,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":218,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":237,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Turn","location":{"start":{"value":238,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":242,"modifier":"EXACT"},"end":{"value":244,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9IYQ"}]},{"type":"Beta strand","location":{"start":{"value":246,"modifier":"EXACT"},"end":{"value":249,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":252,"modifier":"EXACT"},"end":{"value":254,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":258,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":267,"modifier":"EXACT"},"end":{"value":271,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Turn","location":{"start":{"value":272,"modifier":"EXACT"},"end":{"value":275,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":277,"modifier":"EXACT"},"end":{"value":292,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":295,"modifier":"EXACT"},"end":{"value":297,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":298,"modifier":"EXACT"},"end":{"value":300,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOR"}]},{"type":"Helix","location":{"start":{"value":301,"modifier":"EXACT"},"end":{"value":305,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Turn","location":{"start":{"value":308,"modifier":"EXACT"},"end":{"value":310,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":317,"modifier":"EXACT"},"end":{"value":327,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":334,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOQ"}]},{"type":"Beta strand","location":{"start":{"value":338,"modifier":"EXACT"},"end":{"value":340,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":342,"modifier":"EXACT"},"end":{"value":344,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOT"}]},{"type":"Beta strand","location":{"start":{"value":346,"modifier":"EXACT"},"end":{"value":348,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":351,"modifier":"EXACT"},"end":{"value":357,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":360,"modifier":"EXACT"},"end":{"value":367,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":369,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":382,"modifier":"EXACT"},"end":{"value":384,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":385,"modifier":"EXACT"},"end":{"value":387,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ZH7"}]},{"type":"Beta strand","location":{"start":{"value":398,"modifier":"EXACT"},"end":{"value":402,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Turn","location":{"start":{"value":406,"modifier":"EXACT"},"end":{"value":408,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":409,"modifier":"EXACT"},"end":{"value":413,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":419,"modifier":"EXACT"},"end":{"value":422,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":426,"modifier":"EXACT"},"end":{"value":428,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5I2K"}]},{"type":"Beta strand","location":{"start":{"value":434,"modifier":"EXACT"},"end":{"value":439,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":444,"modifier":"EXACT"},"end":{"value":447,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":450,"modifier":"EXACT"},"end":{"value":457,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":458,"modifier":"EXACT"},"end":{"value":470,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":474,"modifier":"EXACT"},"end":{"value":478,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":487,"modifier":"EXACT"},"end":{"value":489,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Turn","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":494,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Beta strand","location":{"start":{"value":496,"modifier":"EXACT"},"end":{"value":498,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":500,"modifier":"EXACT"},"end":{"value":507,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":511,"modifier":"EXACT"},"end":{"value":513,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":521,"modifier":"EXACT"},"end":{"value":524,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":527,"modifier":"EXACT"},"end":{"value":529,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":533,"modifier":"EXACT"},"end":{"value":536,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":538,"modifier":"EXACT"},"end":{"value":543,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":553,"modifier":"EXACT"},"end":{"value":555,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOR"}]},{"type":"Beta strand","location":{"start":{"value":556,"modifier":"EXACT"},"end":{"value":558,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":560,"modifier":"EXACT"},"end":{"value":582,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":603,"modifier":"EXACT"},"end":{"value":615,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":627,"modifier":"EXACT"},"end":{"value":656,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":666,"modifier":"EXACT"},"end":{"value":668,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOT"}]},{"type":"Helix","location":{"start":{"value":670,"modifier":"EXACT"},"end":{"value":673,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":677,"modifier":"EXACT"},"end":{"value":679,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5I2N"}]},{"type":"Beta strand","location":{"start":{"value":684,"modifier":"EXACT"},"end":{"value":687,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":688,"modifier":"EXACT"},"end":{"value":695,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":697,"modifier":"EXACT"},"end":{"value":699,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":700,"modifier":"EXACT"},"end":{"value":706,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Turn","location":{"start":{"value":707,"modifier":"EXACT"},"end":{"value":709,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":711,"modifier":"EXACT"},"end":{"value":713,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5H8F"}]},{"type":"Helix","location":{"start":{"value":714,"modifier":"EXACT"},"end":{"value":722,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":727,"modifier":"EXACT"},"end":{"value":732,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":733,"modifier":"EXACT"},"end":{"value":742,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":746,"modifier":"EXACT"},"end":{"value":748,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":756,"modifier":"EXACT"},"end":{"value":758,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":761,"modifier":"EXACT"},"end":{"value":763,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GIC"}]},{"type":"Helix","location":{"start":{"value":769,"modifier":"EXACT"},"end":{"value":781,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Helix","location":{"start":{"value":784,"modifier":"EXACT"},"end":{"value":792,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GJ1"}]},{"type":"Beta strand","location":{"start":{"value":794,"modifier":"EXACT"},"end":{"value":796,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9GIC"}]},{"type":"Helix","location":{"start":{"value":804,"modifier":"EXACT"},"end":{"value":808,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOQ"}]},{"type":"Helix","location":{"start":{"value":810,"modifier":"EXACT"},"end":{"value":839,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9OOS"}]},{"type":"Helix","location":{"start":{"value":847,"modifier":"EXACT"},"end":{"value":864,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9PQH"}]},{"type":"Helix","location":{"start":{"value":877,"modifier":"EXACT"},"end":{"value":892,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3BYA"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0106","category":"Ligand","name":"Calcium"},{"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-1015","category":"PTM","name":"Disulfide bond"},{"id":"KW-0887","category":"Disease","name":"Epilepsy"},{"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0407","category":"Molecular function","name":"Ion channel"},{"id":"KW-0406","category":"Biological process","name":"Ion transport"},{"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"id":"KW-1071","category":"Molecular function","name":"Ligand-gated ion channel"},{"id":"KW-0460","category":"Ligand","name":"Magnesium"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0479","category":"Ligand","name":"Metal-binding"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-0628","category":"Cellular component","name":"Postsynaptic cell membrane"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-0675","category":"Molecular function","name":"Receptor"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0732","category":"Domain","name":"Signal"},{"id":"KW-0770","category":"Cellular component","name":"Synapse"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"},{"id":"KW-0813","category":"Biological process","name":"Transport"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"},{"id":"KW-0862","category":"Ligand","name":"Zinc"}],"references":[{"referenceNumber":1,"citation":{"id":"8406025","citationType":"journal article","authors":["Foldes R.L.","Rampersad V.","Kamboj R.K."],"citationCrossReferences":[{"database":"PubMed","id":"8406025"},{"database":"DOI","id":"10.1016/0378-1119(93)90309-q"}],"title":"Cloning and sequence analysis of cDNAs encoding human hippocampus N-methyl-D-aspartate receptor subunits: evidence for alternative RNA splicing.","publicationDate":"1993","journal":"Gene","firstPage":"293","lastPage":"298","volume":"131"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","NUCLEOTIDE SEQUENCE [MRNA] OF 11-938 (ISOFORM 3)","NUCLEOTIDE SEQUENCE [MRNA] OF 300-938 (ISOFORM 2)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"7679115","citationType":"journal article","authors":["Karp S.J.","Masu M.","Eki T.","Ozawa K.","Nakanishi S."],"citationCrossReferences":[{"database":"PubMed","id":"7679115"},{"database":"DOI","id":"10.1016/s0021-9258(18)53754-6"}],"title":"Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.","publicationDate":"1993","journal":"J. Biol. Chem.","firstPage":"3728","lastPage":"3733","volume":"268"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3)","FUNCTION","TRANSPORTER ACTIVITY","ACTIVITY REGULATION"]},{"referenceNumber":3,"citation":{"id":"7685113","citationType":"journal article","authors":["Planells-Cases R.","Sun W.","Ferrer-Montiel A.V.","Montal M."],"citationCrossReferences":[{"database":"PubMed","id":"7685113"},{"database":"DOI","id":"10.1073/pnas.90.11.5057"}],"title":"Molecular cloning, functional expression, and pharmacological characterization of an N-methyl-D-aspartate receptor subunit from human brain.","publicationDate":"1993","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"5057","lastPage":"5061","volume":"90"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","FUNCTION","TRANSPORTER ACTIVITY","ACTIVITY REGULATION","SUBUNIT","SUBCELLULAR LOCATION"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"7622053","citationType":"journal article","authors":["Zimmer M.","Fink T.M.","Franke Y.","Lichter P.","Spiess J."],"citationCrossReferences":[{"database":"PubMed","id":"7622053"},{"database":"DOI","id":"10.1016/0378-1119(95)00044-7"}],"title":"Cloning and structure of the gene encoding the human N-methyl-D-aspartate receptor (NMDAR1).","publicationDate":"1995","journal":"Gene","firstPage":"219","lastPage":"223","volume":"159"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]"]},{"referenceNumber":5,"citation":{"id":"9231706","citationType":"journal article","authors":["Nash N.R.","Heilman C.J.","Rees H.D.","Levey A.I."],"citationCrossReferences":[{"database":"PubMed","id":"9231706"},{"database":"DOI","id":"10.1046/j.1471-4159.1997.69020485.x"}],"title":"Cloning and localization of exon 5-containing isoforms of the NMDAR1 subunit in human and rat brains.","publicationDate":"1997","journal":"J. Neurochem.","firstPage":"485","lastPage":"493","volume":"69"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 6 AND 7)","VARIANTS MET-540 AND SER-682"]},{"referenceNumber":6,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.S.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.R.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.I.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.M.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":7,"citation":{"id":"7926821","citationType":"journal article","authors":["Foldes R.L.","Rampersad V.","Kamboj R.K."],"citationCrossReferences":[{"database":"PubMed","id":"7926821"},{"database":"DOI","id":"10.1016/0378-1119(94)90089-2"}],"title":"Cloning and sequence analysis of additional splice variants encoding human N-methyl-D-aspartate receptor (hNR1) subunits.","publicationDate":"1994","journal":"Gene","firstPage":"303","lastPage":"304","volume":"147"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 332-922 (ISOFORM 4)","NUCLEOTIDE SEQUENCE [MRNA] OF 86-259 (ISOFORM 5)"],"referenceComments":[{"value":"Cerebellum","type":"TISSUE"},{"value":"Hippocampus","type":"TISSUE"}]},{"referenceNumber":8,"citation":{"id":"7681588","citationType":"journal article","authors":["Younkin D.P.","Tang C.-M.","Hardy M.","Reddy U.R.","Shi Q.-Y.","Pleasure S.J.","Lee V.M.-Y.","Pleasure D."],"citationCrossReferences":[{"database":"PubMed","id":"7681588"},{"database":"DOI","id":"10.1073/pnas.90.6.2174"}],"title":"Inducible expression of neuronal glutamate receptor channels in the NT2 human cell line.","publicationDate":"1993","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"2174","lastPage":"2178","volume":"90"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 364-464 (ISOFORMS 1/2/3)","FUNCTION","TRANSPORTER ACTIVITY"]},{"referenceNumber":9,"citation":{"id":"8316301","citationType":"journal article","authors":["Tingley W.G.","Roche K.W.","Thompson A.K.","Huganir R.L."],"citationCrossReferences":[{"database":"PubMed","id":"8316301"},{"database":"DOI","id":"10.1038/364070a0"}],"title":"Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain.","publicationDate":"1993","journal":"Nature","firstPage":"70","lastPage":"73","volume":"364"},"referencePositions":["PHOSPHORYLATION AT SER-889; SER-890; SER-896 AND SER-897 BY PKC"]},{"referenceNumber":10,"citation":{"id":"18849881","citationType":"journal article","authors":["Roginski R.S.","Goubaeva F.","Mikami M.","Fried-Cassorla E.","Nair M.R.","Yang J."],"citationCrossReferences":[{"database":"PubMed","id":"18849881"},{"database":"DOI","id":"10.1097/wnr.0b013e328317f05f"}],"title":"GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity.","publicationDate":"2008","journal":"NeuroReport","firstPage":"1721","lastPage":"1726","volume":"19"},"referencePositions":["INTERACTION WITH MYZAP"]},{"referenceNumber":11,"citation":{"id":"27458189","citationType":"journal article","authors":["Kravchick D.O.","Karpova A.","Hrdinka M.","Lopez-Rojas J.","Iacobas S.","Carbonell A.U.","Iacobas D.A.","Kreutz M.R.","Jordan B.A."],"citationCrossReferences":[{"database":"PubMed","id":"27458189"},{"database":"DOI","id":"10.15252/embj.201593070"}],"title":"Synaptonuclear messenger PRR7 inhibits c-Jun ubiquitination and regulates NMDA-mediated excitotoxicity.","publicationDate":"2016","journal":"EMBO J.","firstPage":"1923","lastPage":"1934","volume":"35"},"referencePositions":["IDENTIFICATION IN A COMPLEX WITH GRIN2B AND PRR7","INTERACTION WITH PRR7"]},{"referenceNumber":12,"citation":{"id":"28126851","citationType":"journal article","authors":["Chen W.","Tankovic A.","Burger P.B.","Kusumoto H.","Traynelis S.F.","Yuan H."],"citationCrossReferences":[{"database":"PubMed","id":"28126851"},{"database":"DOI","id":"10.1124/mol.116.106781"}],"title":"Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy.","publicationDate":"2017","journal":"Mol. Pharmacol.","firstPage":"317","lastPage":"330","volume":"91"},"referencePositions":["FUNCTION","TRANSPORTER ACTIVITY","SUBCELLULAR LOCATION","SUBUNIT","MUTAGENESIS OF MET-813"]},{"referenceNumber":13,"citation":{"id":"37142655","citationType":"journal article","authors":["Gu J.","Ke P.","Guo H.","Liu J.","Liu Y.","Tian X.","Huang Z.","Xu X.","Xu D.","Ma Y.","Wang X.","Xiao F."],"citationCrossReferences":[{"database":"PubMed","id":"37142655"},{"database":"DOI","id":"10.1038/s41418-023-01174-5"}],"title":"KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility.","publicationDate":"2023","journal":"Cell Death Differ.","firstPage":"1726","lastPage":"1741","volume":"30"},"referencePositions":["UBIQUITINATION AT LYS-860","MUTAGENESIS OF LYS-860"]},{"referenceNumber":14,"citation":{"id":"10201407","citationType":"journal article","authors":["Opella S.J.","Marassi F.M.","Gesell J.J.","Valente A.P.","Kim Y.","Oblatt-Montal M.","Montal M."],"citationCrossReferences":[{"database":"PubMed","id":"10201407"},{"database":"DOI","id":"10.1038/7610"}],"title":"Structures of the M2 channel-lining segments from nicotinic acetylcholine and NMDA receptors by NMR spectroscopy.","publicationDate":"1999","journal":"Nat. Struct. Biol.","firstPage":"374","lastPage":"379","volume":"6"},"referencePositions":["STRUCTURE BY NMR OF 599-621"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"2NR1"}]},{"referenceNumber":15,"citation":{"id":"26919761","citationType":"journal article","authors":["Volgraf M.","Sellers B.D.","Jiang Y.","Wu G.","Ly C.Q.","Villemure E.","Pastor R.M.","Yuen P.W.","Lu A.","Luo X.","Liu M.","Zhang S.","Sun L.","Fu Y.","Lupardus P.J.","Wallweber H.J.","Liederer B.M.","Deshmukh G.","Plise E.","Tay S.","Reynen P.","Herrington J.","Gustafson A.","Liu Y.","Dirksen A.","Dietz M.G.","Liu Y.","Wang T.M.","Hanson J.E.","Hackos D.","Scearce-Levie K.","Schwarz J.B."],"citationCrossReferences":[{"database":"PubMed","id":"26919761"},{"database":"DOI","id":"10.1021/acs.jmedchem.5b02010"}],"title":"Discovery of GluN2A-Selective NMDA Receptor Positive Allosteric Modulators (PAMs): Tuning Deactivation Kinetics via Structure-Based Design.","publicationDate":"2016","journal":"J. Med. Chem.","firstPage":"2760","lastPage":"2779","volume":"59"},"referencePositions":["X-RAY CRYSTALLOGRAPHY AND 663-800 IN COMPLEXES WITH GRIN2A AND GLYCINE","FUNCTION","TRANSPORTER ACTIVITY","SUBCELLULAR LOCATION","SUBUNIT","DISULFIDE BONDS","DOMAIN"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2K"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5I2N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KDT"}]},{"referenceNumber":16,"citation":{"id":"26875626","citationType":"journal article","authors":["Hackos D.H.","Lupardus P.J.","Grand T.","Chen Y.","Wang T.M.","Reynen P.","Gustafson A.","Wallweber H.J.","Volgraf M.","Sellers B.D.","Schwarz J.B.","Paoletti P.","Sheng M.","Zhou Q.","Hanson J.E."],"citationCrossReferences":[{"database":"PubMed","id":"26875626"},{"database":"DOI","id":"10.1016/j.neuron.2016.01.016"}],"title":"Positive Allosteric Modulators of GluN2A-Containing NMDARs with Distinct Modes of Action and Impacts on Circuit Function.","publicationDate":"2016","journal":"Neuron","firstPage":"983","lastPage":"999","volume":"89"},"referencePositions":["X-RAY CRYSTALLOGRAPHY AND 663-800 IN COMPLEXES WITH GRIN2A AND GLYCINE","FUNCTION","TRANSPORTER ACTIVITY","SUBUNIT","SUBCELLULAR LOCATION","DISULFIDE BONDS","DOMAIN"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8F"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8H"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8N"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5H8Q"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5KCJ"}]},{"referenceNumber":17,"citation":{"id":"28105280","citationType":"journal article","authors":["Villemure E.","Volgraf M.","Jiang Y.","Wu G.","Ly C.Q.","Yuen P.W.","Lu A.","Luo X.","Liu M.","Zhang S.","Lupardus P.J.","Wallweber H.J.","Liederer B.M.","Deshmukh G.","Plise E.","Tay S.","Wang T.M.","Hanson J.E.","Hackos D.H.","Scearce-Levie K.","Schwarz J.B.","Sellers B.D."],"citationCrossReferences":[{"database":"PubMed","id":"28105280"},{"database":"DOI","id":"10.1021/acsmedchemlett.6b00388"}],"title":"GluN2A-Selective Pyridopyrimidinone Series of NMDAR Positive Allosteric Modulators with an Improved in Vivo Profile.","publicationDate":"2017","journal":"ACS Med. Chem. Lett.","firstPage":"84","lastPage":"89","volume":"8"},"referencePositions":["X-RAY CRYSTALLOGRAPHY AND 663-800 IN COMPLEX WITH GRIN2A AND GLYCINE","FUNCTION","SUBCELLULAR LOCATION","SUBUNIT","DISULFIDE BONDS","DOMAIN"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TP9"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5TPA"}]},{"referenceNumber":18,"citation":{"id":"34321660","citationType":"journal article","authors":["Zhang Y.","Ye F.","Zhang T.","Lv S.","Zhou L.","Du D.","Lin H.","Guo F.","Luo C.","Zhu S."],"citationCrossReferences":[{"database":"PubMed","id":"34321660"},{"database":"DOI","id":"10.1038/s41586-021-03769-9"}],"title":"Structural basis of ketamine action on human NMDA receptors.","publicationDate":"2021","journal":"Nature","firstPage":"301","lastPage":"305","volume":"596"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EU7"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EU8"}]},{"referenceNumber":19,"citation":{"id":"34186027","citationType":"journal article","authors":["Wang H.","Lv S.","Stroebel D.","Zhang J.","Pan Y.","Huang X.","Zhang X.","Paoletti P.","Zhu S."],"citationCrossReferences":[{"database":"PubMed","id":"34186027"},{"database":"DOI","id":"10.1016/j.neuron.2021.05.031"}],"title":"Gating mechanism and a modulatory niche of human GluN1-GluN2A NMDA receptors.","publicationDate":"2021","journal":"Neuron","firstPage":"2443","lastPage":"2456","volume":"109"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY IN COMPLEX WITH GRIN2A","SUBUNIT","TOPOLOGY","GLYCOSYLATION AT ASN-276; ASN-471 AND ASN-771"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOQ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOR"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOS"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOT"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7EOU"}]},{"referenceNumber":20,"citation":{"id":"36309015","citationType":"journal article","authors":["Chou T.H.","Kang H.","Simorowski N.","Traynelis S.F.","Furukawa H."],"citationCrossReferences":[{"database":"PubMed","id":"36309015"},{"database":"DOI","id":"10.1016/j.molcel.2022.10.008"}],"title":"Structural insights into assembly and function of GluN1-2C, GluN1-2A-2C, and GluN1-2D NMDARs.","publicationDate":"2022","journal":"Mol. Cell","firstPage":"4548","lastPage":"4563.e4","volume":"82"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY IN COMPLEX WITH GRIN2A; GRIN2C; GRIN2D AND GLYCINE","SUBUNIT","DISULFIDE BOND","DOMAIN","GLYCOSYLATION AT ASN-61; ASN-203; ASN-239; ASN-276; ASN-350; ASN-368; ASN-471 AND ASN-771"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"8E92"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"8E93"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"8E94"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"8E97"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"8E98"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"8E99"}]},{"referenceNumber":21,"citation":{"id":"36959261","citationType":"journal article","authors":["Zhang J.","Zhang M.","Wang Q.","Wen H.","Liu Z.","Wang F.","Wang Y.","Yao F.","Song N.","Kou Z.","Li Y.","Guo F.","Zhu S."],"citationCrossReferences":[{"database":"PubMed","id":"36959261"},{"database":"DOI","id":"10.1038/s41594-023-00959-z"}],"title":"Distinct structure and gating mechanism in diverse NMDA receptors with GluN2C and GluN2D subunits.","publicationDate":"2023","journal":"Nat. Struct. Mol. Biol.","firstPage":"629","lastPage":"639","volume":"30"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY IN COMPLEX WITH GRIN2A; GRIN2C; GRIN2D AND GLYCINE","DISULFIDE BONDS","GLYCOSYLATION AT ASN-203 AND ASN-471","FUNCTION","SUBUNIT"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFF"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFL"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFM"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFO"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"7YFR"}]},{"referenceNumber":22,"citation":{"id":"38598639","citationType":"journal article","authors":["Michalski K.","Furukawa H."],"citationCrossReferences":[{"database":"PubMed","id":"38598639"},{"database":"DOI","id":"10.1126/sciadv.adl5952"}],"title":"Structure and function of GluN1-3A NMDA receptor excitatory glycine receptor channel.","publicationDate":"2024","journal":"Sci. Adv.","firstPage":"952","lastPage":"952","volume":"10"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY IN COMPLEX WITH GRIN3A","DISULFIDE BOND","FUNCTION"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"8UUE"}]},{"referenceNumber":23,"citation":{"id":"21376300","citationType":"journal article","authors":["Hamdan F.F.","Gauthier J.","Araki Y.","Lin D.T.","Yoshizawa Y.","Higashi K.","Park A.R.","Spiegelman D.","Dobrzeniecka S.","Piton A.","Tomitori H.","Daoud H.","Massicotte C.","Henrion E.","Diallo O.","Shekarabi M.","Marineau C.","Shevell M.","Maranda B.","Mitchell G.","Nadeau A.","D'Anjou G.","Vanasse M.","Srour M.","Lafreniere R.G.","Drapeau P.","Lacaille J.C.","Kim E.","Lee J.R.","Igarashi K.","Huganir R.L.","Rouleau G.A.","Michaud J.L."],"citationCrossReferences":[{"database":"PubMed","id":"21376300"},{"database":"DOI","id":"10.1016/j.ajhg.2011.02.001"}],"title":"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.","publicationDate":"2011","journal":"Am. J. Hum. Genet.","firstPage":"306","lastPage":"316","volume":"88"},"referencePositions":["VARIANTS NDHMSD SER-560 INS AND LYS-662","CHARACTERIZATION OF VARIANTS NDHMSD SER-560 INS AND LYS-662","FUNCTION","TRANSPORTER ACTIVITY"]},{"referenceNumber":24,"citation":{"id":"22833210","citationType":"journal article","authoringGroup":["S2D team"],"authors":["Tarabeux J.","Kebir O.","Gauthier J.","Hamdan F.F.","Xiong L.","Piton A.","Spiegelman D.","Henrion E.","Millet B.","Fathalli F.","Joober R.","Rapoport J.L.","DeLisi L.E.","Fombonne E.","Mottron L.","Forget-Dubois N.","Boivin M.","Michaud J.L.","Drapeau P.","Lafreniere R.G.","Rouleau G.A.","Krebs M.O."],"citationCrossReferences":[{"database":"PubMed","id":"22833210"},{"database":"DOI","id":"10.1038/tp.2011.52"}],"title":"Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.","publicationDate":"2011","journal":"Transl. Psychiatry","firstPage":"E55","lastPage":"E55","volume":"1"},"referencePositions":["VARIANTS GLN-306; SER-349 AND ALA-419"]},{"referenceNumber":25,"citation":{"id":"25167861","citationType":"journal article","authors":["Redin C.","Gerard B.","Lauer J.","Herenger Y.","Muller J.","Quartier A.","Masurel-Paulet A.","Willems M.","Lesca G.","El-Chehadeh S.","Le Gras S.","Vicaire S.","Philipps M.","Dumas M.","Geoffroy V.","Feger C.","Haumesser N.","Alembik Y.","Barth M.","Bonneau D.","Colin E.","Dollfus H.","Doray B.","Delrue M.A.","Drouin-Garraud V.","Flori E.","Fradin M.","Francannet C.","Goldenberg A.","Lumbroso S.","Mathieu-Dramard M.","Martin-Coignard D.","Lacombe D.","Morin G.","Polge A.","Sukno S.","Thauvin-Robinet C.","Thevenon J.","Doco-Fenzy M.","Genevieve D.","Sarda P.","Edery P.","Isidor B.","Jost B.","Olivier-Faivre L.","Mandel J.L.","Piton A."],"citationCrossReferences":[{"database":"PubMed","id":"25167861"},{"database":"DOI","id":"10.1136/jmedgenet-2014-102554"}],"title":"Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.","publicationDate":"2014","journal":"J. Med. Genet.","firstPage":"724","lastPage":"736","volume":"51"},"referencePositions":["VARIANT NDHMSD ARG-557"]},{"referenceNumber":26,"citation":{"id":"25864721","citationType":"journal article","authors":["Ohba C.","Shiina M.","Tohyama J.","Haginoya K.","Lerman-Sagie T.","Okamoto N.","Blumkin L.","Lev D.","Mukaida S.","Nozaki F.","Uematsu M.","Onuma A.","Kodera H.","Nakashima M.","Tsurusaki Y.","Miyake N.","Tanaka F.","Kato M.","Ogata K.","Saitsu H.","Matsumoto N."],"citationCrossReferences":[{"database":"PubMed","id":"25864721"},{"database":"DOI","id":"10.1111/epi.12987"}],"title":"GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.","publicationDate":"2015","journal":"Epilepsia","firstPage":"841","lastPage":"848","volume":"56"},"referencePositions":["VARIANTS NDHMSD GLU-552; ILE-641; LYS-650 AND ARG-815"]},{"referenceNumber":27,"citation":{"id":"27164704","citationType":"journal article","authors":["Lemke J.R.","Geider K.","Helbig K.L.","Heyne H.O.","Schuetz H.","Hentschel J.","Courage C.","Depienne C.","Nava C.","Heron D.","Moeller R.S.","Hjalgrim H.","Lal D.","Neubauer B.A.","Nuernberg P.","Thiele H.","Kurlemann G.","Arnold G.L.","Bhambhani V.","Bartholdi D.","Pedurupillay C.R.","Misceo D.","Frengen E.","Stroemme P.","Dlugos D.J.","Doherty E.S.","Bijlsma E.K.","Ruivenkamp C.A.","Hoffer M.J.","Goldstein A.","Rajan D.S.","Narayanan V.","Ramsey K.","Belnap N.","Schrauwen I.","Richholt R.","Koeleman B.P.","Sa J.","Mendonca C.","de Kovel C.G.","Weckhuysen S.","Hardies K.","De Jonghe P.","De Meirleir L.","Milh M.","Badens C.","Lebrun M.","Busa T.","Francannet C.","Piton A.","Riesch E.","Biskup S.","Vogt H.","Dorn T.","Helbig I.","Michaud J.L.","Laube B.","Syrbe S."],"citationCrossReferences":[{"database":"PubMed","id":"27164704"},{"database":"DOI","id":"10.1212/wnl.0000000000002740"}],"title":"Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.","publicationDate":"2016","journal":"Neurology","firstPage":"2171","lastPage":"2178","volume":"86"},"referencePositions":["VARIANTS NDHMSD GLU-552; ARG-557; ARG-618; ARG-620; SER-645; SER-647; ARG-815; VAL-815; LEU-817; ARG-827 AND CYS-844","VARIANT NDHMSR TRP-217","VARIANT DEE101 556-GLN--SER-938 DEL","CHARACTERIZATION OF VARIANTS NDHMSD ARG-557; ARG-618; ARG-620; SER-645; SER-647; ARG-815; LEU-817; ARG-827 AND CYS-844","CHARACTERIZATION OF VARIANT NDHMSR TRP-217","CHARACTERIZATION OF VARIANT DEE101 556-GLN--SER-938 DEL","FUNCTION"]},{"referenceNumber":28,"citation":{"id":"28051072","citationType":"journal article","authors":["Rossi M.","Chatron N.","Labalme A.","Ville D.","Carneiro M.","Edery P.","des Portes V.","Lemke J.R.","Sanlaville D.","Lesca G."],"citationCrossReferences":[{"database":"PubMed","id":"28051072"},{"database":"DOI","id":"10.1038/ejhg.2016.163"}],"title":"Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.","publicationDate":"2017","journal":"Eur. J. Hum. Genet.","firstPage":"376","lastPage":"380","volume":"25"},"referencePositions":["VARIANT NDHMSR HIS-227"]},{"referenceNumber":29,"citation":{"id":"28389307","citationType":"journal article","authors":["Zehavi Y.","Mandel H.","Zehavi A.","Rashid M.A.","Straussberg R.","Jabur B.","Shaag A.","Elpeleg O.","Spiegel R."],"citationCrossReferences":[{"database":"PubMed","id":"28389307"},{"database":"DOI","id":"10.1016/j.ejmg.2017.04.001"}],"title":"De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.","publicationDate":"2017","journal":"Eur. J. Med. Genet.","firstPage":"317","lastPage":"320","volume":"60"},"referencePositions":["VARIANTS NDHMSD TYR-688 AND ARG-827"]},{"referenceNumber":30,"citation":{"id":"28228639","citationType":"journal article","authors":["Chen W.","Shieh C.","Swanger S.A.","Tankovic A.","Au M.","McGuire M.","Tagliati M.","Graham J.M.","Madan-Khetarpal S.","Traynelis S.F.","Yuan H.","Pierson T.M."],"citationCrossReferences":[{"database":"PubMed","id":"28228639"},{"database":"DOI","id":"10.1038/jhg.2017.19"}],"title":"GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.","publicationDate":"2017","journal":"J. Hum. Genet.","firstPage":"589","lastPage":"597","volume":"62"},"referencePositions":["VARIANT NDHMSD ARG-620","CHARACTERIZATION OF VARIANT NDHMSD ARG-620","FUNCTION","SUBCELLULAR LOCATION"]},{"referenceNumber":31,"citation":{"id":"28095420","citationType":"journal article","authors":["Ogden K.K.","Chen W.","Swanger S.A.","McDaniel M.J.","Fan L.Z.","Hu C.","Tankovic A.","Kusumoto H.","Kosobucki G.J.","Schulien A.J.","Su Z.","Pecha J.","Bhattacharya S.","Petrovski S.","Cohen A.E.","Aizenman E.","Traynelis S.F.","Yuan H."],"citationCrossReferences":[{"database":"PubMed","id":"28095420"},{"database":"DOI","id":"10.1371/journal.pgen.1006536"}],"title":"Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology.","publicationDate":"2017","journal":"PLoS Genet.","firstPage":"E1006536","lastPage":"E1006536","volume":"13"},"referencePositions":["CHARACTERIZATION OF VARIANT NDHMSD GLU-552 AND ARG-557","FUNCTION","SUBCELLULAR LOCATION"]},{"referenceNumber":32,"citation":{"id":"34611970","citationType":"journal article","authors":["Blakes A.J.M.","English J.","Banka S.","Basu H."],"citationCrossReferences":[{"database":"PubMed","id":"34611970"},{"database":"DOI","id":"10.1002/ajmg.a.62528"}],"title":"A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.","publicationDate":"2022","journal":"Am. J. Med. Genet. A","firstPage":"595","lastPage":"599","volume":"188"},"referencePositions":["INVOLVEMENT IN DEE101"]},{"referenceNumber":33,"citation":{"id":"38538865","citationType":"journal article","authors":["Xu Y.","Song R.","Perszyk R.E.","Chen W.","Kim S.","Park K.L.","Allen J.P.","Nocilla K.A.","Zhang J.","Xiang Wei W.","Tankovic A.","McDaniels E.D.","Sheikh R.","Mizu R.K.","Karamchandani M.M.","Hu C.","Kusumoto H.","Pecha J.","Cappuccio G.","Gaitanis J.","Sullivan J.","Shashi V.","Petrovski S.","Jauss R.T.","Lee H.K.","Bozarth X.","Lynch D.R.","Helbig I.","Pierson T.M.","Boerkoel C.F.","Myers S.J.","Lemke J.R.","Benke T.A.","Yuan H.","Traynelis S.F."],"citationCrossReferences":[{"database":"PubMed","id":"38538865"},{"database":"DOI","id":"10.1007/s00018-023-05069-z"}],"title":"De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.","publicationDate":"2024","journal":"Cell. Mol. Life Sci.","firstPage":"153","lastPage":"153","volume":"81"},"referencePositions":["VARIANTS NDHMSD SER-637; VAL-637; ALA-638; VAL-638; ILE-641; LEU-641; VAL-641; THR-642; VAL-643; CYS-647; SER-647; ILE-650; LYS-650; THR-652; THR-653; CYS-654 AND GLN-655","CHARACTERIZATION OF VARIANTS NDHMSD VAL-637; VAL-638; ILE-641; THR-642; CYS-647; SER-647; ILE-650; LYS-650; THR-653; CYS-654 AND GLN-655","MUTAGENESIS OF ILE-642; VAL-644 AND ALA-653","FUNCTION","SUBCELLULAR LOCATION"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"L13266","properties":[{"key":"ProteinId","value":"AAB59360.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"L13267","properties":[{"key":"ProteinId","value":"AAA36198.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"L13268","properties":[{"key":"ProteinId","value":"AAB59361.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"D13515","properties":[{"key":"ProteinId","value":"BAA02732.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"L05666","properties":[{"key":"ProteinId","value":"AAA21180.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF015730","properties":[{"key":"ProteinId","value":"AAB67723.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF015731","properties":[{"key":"ProteinId","value":"AAB67724.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"Z32772","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"Z32773","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"Z32774","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL929554","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"U08106","properties":[{"key":"ProteinId","value":"AAA62111.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"U08107","properties":[{"key":"ProteinId","value":"AAA62112.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"S57708","properties":[{"key":"ProteinId","value":"AAB25917.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS43910.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-2"},{"database":"CCDS","id":"CCDS55354.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-6"},{"database":"CCDS","id":"CCDS55355.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-7"},{"database":"CCDS","id":"CCDS7031.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-1"},{"database":"CCDS","id":"CCDS7032.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-3"},{"database":"PIR","id":"A46612","properties":[{"key":"EntryName","value":"A46612"}]},{"database":"PIR","id":"A47551","properties":[{"key":"EntryName","value":"A47551"}]},{"database":"RefSeq","id":"NP_000823.4","properties":[{"key":"NucleotideSequenceId","value":"NM_000832.7"}],"isoformId":"Q05586-2"},{"database":"RefSeq","id":"NP_001172019.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001185090.2"}],"isoformId":"Q05586-6"},{"database":"RefSeq","id":"NP_001172020.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001185091.2"}],"isoformId":"Q05586-7"},{"database":"RefSeq","id":"NP_001424259.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001437330.1"}],"isoformId":"Q05586-5"},{"database":"RefSeq","id":"NP_015566.1","properties":[{"key":"NucleotideSequenceId","value":"NM_007327.4"}],"isoformId":"Q05586-1"},{"database":"RefSeq","id":"NP_067544.1","properties":[{"key":"NucleotideSequenceId","value":"NM_021569.4"}],"isoformId":"Q05586-3"},{"database":"RefSeq","id":"XP_005266128.1","properties":[{"key":"NucleotideSequenceId","value":"XM_005266071.4"}],"isoformId":"Q05586-4"},{"database":"RefSeq","id":"XP_054218782.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054362807.1"}],"isoformId":"Q05586-4"},{"database":"PDB","id":"10EY","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.10 A"},{"key":"Chains","value":"A/C=1-838"}]},{"database":"PDB","id":"10EZ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.76 A"},{"key":"Chains","value":"A/C=1-841"}]},{"database":"PDB","id":"10FD","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.09 A"},{"key":"Chains","value":"A/C=1-841"}]},{"database":"PDB","id":"10FE","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.55 A"},{"key":"Chains","value":"A/C=1-841"}]},{"database":"PDB","id":"10FF","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.06 A"},{"key":"Chains","value":"A/C=1-841"}]},{"database":"PDB","id":"10FL","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.81 A"},{"key":"Chains","value":"A/C=1-841"}]},{"database":"PDB","id":"10FN","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.52 A"},{"key":"Chains","value":"A/C=1-841"}]},{"database":"PDB","id":"10FO","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.46 A"},{"key":"Chains","value":"A/C=1-841"}]},{"database":"PDB","id":"2HQW","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"B=875-898"}]},{"database":"PDB","id":"2NR1","properties":[{"key":"Method","value":"NMR"},{"key":"Resolution","value":"-"},{"key":"Chains","value":"A=599-621"}]},{"database":"PDB","id":"3BYA","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.85 A"},{"key":"Chains","value":"B=875-898"}]},{"database":"PDB","id":"5H8F","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.81 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5H8H","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.23 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5H8N","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.50 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5H8Q","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5I2K","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.86 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5I2N","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.12 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5KCJ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.09 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5KDT","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.44 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5TP9","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.40 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"5TPA","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.48 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"6IRA","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.50 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"6IRF","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"5.10 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"6IRG","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"5.50 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"6IRH","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"7.80 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"7EOQ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.10 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"7EOR","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.00 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"7EOS","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.90 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"7EOT","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.80 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"7EOU","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.30 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"7EU7","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.50 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"7EU8","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.07 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"7YFF","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.60 A"},{"key":"Chains","value":"A/C=1-840"}]},{"database":"PDB","id":"7YFL","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.90 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"7YFM","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"5.10 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"7YFO","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"6.40 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"7YFR","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"5.10 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"8E92","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.96 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"8E93","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.71 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"8E94","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.72 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"8E96","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.38 A"},{"key":"Chains","value":"A/C=19-847"}]},{"database":"PDB","id":"8E97","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.19 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"8E98","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.75 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"8E99","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.24 A"},{"key":"Chains","value":"A/C=1-843"}]},{"database":"PDB","id":"8JIZ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.80 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"8JJ0","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.50 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"8JJ1","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.77 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"8JJ2","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.30 A"},{"key":"Chains","value":"B/D=1-847"}]},{"database":"PDB","id":"8USX","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.10 A"},{"key":"Chains","value":"A/C=23-843"}]},{"database":"PDB","id":"8UUE","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.96 A"},{"key":"Chains","value":"A/C=395-798"}]},{"database":"PDB","id":"8VUH","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.42 A"},{"key":"Chains","value":"A=27-841, C=26-841"}]},{"database":"PDB","id":"8VUJ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.92 A"},{"key":"Chains","value":"A=27-841, C=26-841"}]},{"database":"PDB","id":"8VUL","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.83 A"},{"key":"Chains","value":"A=25-393"}]},{"database":"PDB","id":"8VUN","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.01 A"},{"key":"Chains","value":"A/C=25-841"}]},{"database":"PDB","id":"8VUQ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.85 A"},{"key":"Chains","value":"A=25-393"}]},{"database":"PDB","id":"8VUR","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.84 A"},{"key":"Chains","value":"A/C=27-841"}]},{"database":"PDB","id":"8VUS","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.99 A"},{"key":"Chains","value":"A/C=23-798"}]},{"database":"PDB","id":"8VUT","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.70 A"},{"key":"Chains","value":"A/C=25-841"}]},{"database":"PDB","id":"8VUU","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.05 A"},{"key":"Chains","value":"A/C=23-838"}]},{"database":"PDB","id":"8VUV","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.69 A"},{"key":"Chains","value":"A=23-393"}]},{"database":"PDB","id":"8Y1V","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.20 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"8ZH7","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.50 A"},{"key":"Chains","value":"A/D/G/J=21-393"}]},{"database":"PDB","id":"9D37","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.34 A"},{"key":"Chains","value":"A/C=23-847"}]},{"database":"PDB","id":"9D38","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.95 A"},{"key":"Chains","value":"A/C=23-847"}]},{"database":"PDB","id":"9D39","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.65 A"},{"key":"Chains","value":"A/C=23-847"}]},{"database":"PDB","id":"9D3A","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.78 A"},{"key":"Chains","value":"A/C=23-847"}]},{"database":"PDB","id":"9D3B","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.71 A"},{"key":"Chains","value":"A/C=23-847"}]},{"database":"PDB","id":"9D3C","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.96 A"},{"key":"Chains","value":"A/C=23-847"}]},{"database":"PDB","id":"9GIB","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.95 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"9GIC","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.82 A"},{"key":"Chains","value":"A=394-544, A=663-801"}]},{"database":"PDB","id":"9GID","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.00 A"},{"key":"Chains","value":"A=394-544, A=663-801"}]},{"database":"PDB","id":"9GIE","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.36 A"},{"key":"Chains","value":"A/B=394-544, A/B=663-801"}]},{"database":"PDB","id":"9GIF","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"A=394-544, A=663-801"}]},{"database":"PDB","id":"9GIG","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.09 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"9GJ1","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.62 A"},{"key":"Chains","value":"B=394-544, B=663-800"}]},{"database":"PDB","id":"9IYP","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.27 A"},{"key":"Chains","value":"A/C=27-840"}]},{"database":"PDB","id":"9IYQ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.18 A"},{"key":"Chains","value":"A/C=1-847"}]},{"database":"PDB","id":"9MUL","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.40 A"},{"key":"Chains","value":"A=394-544, A=663-800"}]},{"database":"PDB","id":"9MUM","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.97 A"},{"key":"Chains","value":"A=394-544, A=663-800"}]},{"database":"PDB","id":"9OOQ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.20 A"},{"key":"Chains","value":"A/C=18-847"}]},{"database":"PDB","id":"9OOR","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.15 A"},{"key":"Chains","value":"A/C=18-847"}]},{"database":"PDB","id":"9OOS","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.03 A"},{"key":"Chains","value":"A/C=18-847"}]},{"database":"PDB","id":"9OOT","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.13 A"},{"key":"Chains","value":"A/C=18-847"}]},{"database":"PDB","id":"9PQH","properties":[{"key":"Method","value":"NMR"},{"key":"Resolution","value":"-"},{"key":"Chains","value":"B=1-938"}]},{"database":"AlphaFoldDB","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27953","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27954","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27955","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27957","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27958","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27959","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27960","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-27961","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-31227","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-31228","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-31229","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-31230","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-31231","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-31308","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-31309","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-33788","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-33792","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-33793","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-33795","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-33798","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-36335","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-36336","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-36337","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-36338","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-38847","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-42522","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-42580","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43530","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43531","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43532","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43534","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43536","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43537","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43538","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43539","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43540","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-43541","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-46526","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-46527","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-46528","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-46529","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-46530","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-46531","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-61000","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-61001","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-70669","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-70670","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-70671","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-70672","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75122","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75123","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75127","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75128","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75129","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75134","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75136","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-75138","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-9714","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-9715","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-9716","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-9717","properties":[{"key":"Description","value":"-"}]},{"database":"SASBDB","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"109159","properties":[{"key":"Interactions","value":"67"}]},{"database":"ComplexPortal","id":"CPX-2202","properties":[{"key":"EntryName","value":"NMDA receptor complex, GluN1-GluN2A"}]},{"database":"ComplexPortal","id":"CPX-285","properties":[{"key":"EntryName","value":"NMDA receptor complex, GluN1-GluN2B"}]},{"database":"ComplexPortal","id":"CPX-286","properties":[{"key":"EntryName","value":"NMDA receptor complex, GluN1-GluN2C"}]},{"database":"ComplexPortal","id":"CPX-289","properties":[{"key":"EntryName","value":"NMDA receptor complex, GluN1-GluN2D"}]},{"database":"ComplexPortal","id":"CPX-294","properties":[{"key":"EntryName","value":"NMDA receptor complex, GluN1-GluN2A-GluN2B"}]},{"database":"CORUM","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"Q05586","properties":[{"key":"Number of interactors","value":"1117"}]},{"database":"IntAct","id":"Q05586","properties":[{"key":"Interactions","value":"105"}]},{"database":"NDEx","id":"IQUERY-CP-GRIN1","properties":[{"key":"Evidences","value":"23 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000360608","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL2015","properties":[{"key":"Description","value":"-"}]},{"database":"DrugBank","id":"DB01931","properties":[{"key":"GenericName","value":"5,7-Dichlorokynurenic acid"}]},{"database":"DrugBank","id":"DB00659","properties":[{"key":"GenericName","value":"Acamprosate"}]},{"database":"DrugBank","id":"DB06151","properties":[{"key":"GenericName","value":"Acetylcysteine"}]},{"database":"DrugBank","id":"DB08838","properties":[{"key":"GenericName","value":"Agmatine"}]},{"database":"DrugBank","id":"DB01238","properties":[{"key":"GenericName","value":"Aripiprazole"}]},{"database":"DrugBank","id":"DB00128","properties":[{"key":"GenericName","value":"Aspartic acid"}]},{"database":"DrugBank","id":"DB00289","properties":[{"key":"GenericName","value":"Atomoxetine"}]},{"database":"DrugBank","id":"DB05824","properties":[{"key":"GenericName","value":"CNS-5161"}]},{"database":"DrugBank","id":"DB04620","properties":[{"key":"GenericName","value":"Cycloleucine"}]},{"database":"DrugBank","id":"DB00260","properties":[{"key":"GenericName","value":"Cycloserine"}]},{"database":"DrugBank","id":"DB02655","properties":[{"key":"GenericName","value":"D-Aspartic Acid"}]},{"database":"DrugBank","id":"DB03929","properties":[{"key":"GenericName","value":"D-Serine"}]},{"database":"DrugBank","id":"DB00647","properties":[{"key":"GenericName","value":"Dextropropoxyphene"}]},{"database":"DrugBank","id":"DB20240","properties":[{"key":"GenericName","value":"Dizocilpine"}]},{"database":"DrugBank","id":"DB00843","properties":[{"key":"GenericName","value":"Donepezil"}]},{"database":"DrugBank","id":"DB12869","properties":[{"key":"GenericName","value":"Eliprodil"}]},{"database":"DrugBank","id":"DB00228","properties":[{"key":"GenericName","value":"Enflurane"}]},{"database":"DrugBank","id":"DB11823","properties":[{"key":"GenericName","value":"Esketamine"}]},{"database":"DrugBank","id":"DB03759","properties":[{"key":"GenericName","value":"FG-9041"}]},{"database":"DrugBank","id":"DB13146","properties":[{"key":"GenericName","value":"Fluciclovine (18F)"}]},{"database":"DrugBank","id":"DB06741","properties":[{"key":"GenericName","value":"Gavestinel"}]},{"database":"DrugBank","id":"DB00142","properties":[{"key":"GenericName","value":"Glutamic acid"}]},{"database":"DrugBank","id":"DB00874","properties":[{"key":"GenericName","value":"Guaifenesin"}]},{"database":"DrugBank","id":"DB08954","properties":[{"key":"GenericName","value":"Ifenprodil"}]},{"database":"DrugBank","id":"DB06738","properties":[{"key":"GenericName","value":"Ketobemidone"}]},{"database":"DrugBank","id":"DB11937","properties":[{"key":"GenericName","value":"Kynurenic Acid"}]},{"database":"DrugBank","id":"DB09409","properties":[{"key":"GenericName","value":"Magnesium acetate tetrahydrate"}]},{"database":"DrugBank","id":"DB09481","properties":[{"key":"GenericName","value":"Magnesium carbonate"}]},{"database":"DrugBank","id":"DB04175","properties":[{"key":"GenericName","value":"Mdl-29951"}]},{"database":"DrugBank","id":"DB01043","properties":[{"key":"GenericName","value":"Memantine"}]},{"database":"DrugBank","id":"DB00454","properties":[{"key":"GenericName","value":"Meperidine"}]},{"database":"DrugBank","id":"DB00333","properties":[{"key":"GenericName","value":"Methadone"}]},{"database":"DrugBank","id":"DB04896","properties":[{"key":"GenericName","value":"Milnacipran"}]},{"database":"DrugBank","id":"DB01173","properties":[{"key":"GenericName","value":"Orphenadrine"}]},{"database":"DrugBank","id":"DB00312","properties":[{"key":"GenericName","value":"Pentobarbital"}]},{"database":"DrugBank","id":"DB03575","properties":[{"key":"GenericName","value":"Phencyclidine"}]},{"database":"DrugBank","id":"DB01174","properties":[{"key":"GenericName","value":"Phenobarbital"}]},{"database":"DrugBank","id":"DB01708","properties":[{"key":"GenericName","value":"Prasterone"}]},{"database":"DrugBank","id":"DB01069","properties":[{"key":"GenericName","value":"Promethazine"}]},{"database":"DrugBank","id":"DB00418","properties":[{"key":"GenericName","value":"Secobarbital"}]},{"database":"DrugBank","id":"DB00127","properties":[{"key":"GenericName","value":"Spermine"}]},{"database":"DrugBank","id":"DB00193","properties":[{"key":"GenericName","value":"Tramadol"}]},{"database":"DrugCentral","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"GuidetoPHARMACOLOGY","id":"455","properties":[{"key":"Description","value":"-"}]},{"database":"TCDB","id":"1.A.10.1.20","properties":[{"key":"FamilyName","value":"the glutamate-gated ion channel (gic) family of neurotransmitter receptors"}]},{"database":"GlyCosmos","id":"Q05586","properties":[{"key":"glycosylation","value":"14 sites, 3 glycans"}]},{"database":"GlyGen","id":"Q05586","properties":[{"key":"glycosylation","value":"14 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)"}]},{"database":"iPTMnet","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"SwissPalm","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"GRIN1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"548377","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000360608","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"58336","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-1"},{"database":"ProteomicsDB","id":"58337","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-2"},{"database":"ProteomicsDB","id":"58338","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-3"},{"database":"ProteomicsDB","id":"58339","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-4"},{"database":"ProteomicsDB","id":"58340","properties":[{"key":"Description","value":"-"}],"isoformId":"Q05586-5"},{"database":"ProteomicsDB","id":"65258","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"65259","properties":[{"key":"Description","value":"-"}]},{"database":"ABCD","id":"Q05586","properties":[{"key":"antibodies","value":"8 sequenced antibodies"}]},{"database":"Antibodypedia","id":"3475","properties":[{"key":"antibodies","value":"1416 antibodies from 52 providers"}]},{"database":"DNASU","id":"2902","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000371546.8","properties":[{"key":"ProteinId","value":"ENSP00000360601.4"},{"key":"GeneId","value":"ENSG00000176884.17"}],"isoformId":"Q05586-5"},{"database":"Ensembl","id":"ENST00000371550.8","properties":[{"key":"ProteinId","value":"ENSP00000360605.4"},{"key":"GeneId","value":"ENSG00000176884.17"}],"isoformId":"Q05586-3"},{"database":"Ensembl","id":"ENST00000371553.8","properties":[{"key":"ProteinId","value":"ENSP00000360608.3"},{"key":"GeneId","value":"ENSG00000176884.17"}],"isoformId":"Q05586-6"},{"database":"Ensembl","id":"ENST00000371559.8","properties":[{"key":"ProteinId","value":"ENSP00000360614.4"},{"key":"GeneId","value":"ENSG00000176884.17"}],"isoformId":"Q05586-2"},{"database":"Ensembl","id":"ENST00000371560.5","properties":[{"key":"ProteinId","value":"ENSP00000360615.3"},{"key":"GeneId","value":"ENSG00000176884.17"}],"isoformId":"Q05586-7"},{"database":"Ensembl","id":"ENST00000371561.8","properties":[{"key":"ProteinId","value":"ENSP00000360616.3"},{"key":"GeneId","value":"ENSG00000176884.17"}],"isoformId":"Q05586-1"},{"database":"GeneID","id":"2902","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:2902","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000371561.8","properties":[{"key":"ProteinId","value":"ENSP00000360616.3"},{"key":"RefSeqNucleotideId","value":"NM_007327.4"},{"key":"RefSeqProteinId","value":"NP_015566.1"}]},{"database":"UCSC","id":"uc004clk.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q05586-1"},{"database":"AGR","id":"HGNC:4584","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA28978","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"2902","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"2902","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"GRIN1","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"GRIN1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:4584","properties":[{"key":"GeneName","value":"GRIN1"}]},{"database":"HPA","id":"ENSG00000176884","properties":[{"key":"ExpressionPatterns","value":"Tissue enriched (brain)"}]},{"database":"MalaCards","id":"GRIN1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"138249","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"614254","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"617820","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"619814","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000176884","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"178469","properties":[{"key":"Disease","value":"Autosomal dominant non-syndromic intellectual disability"}]},{"database":"Orphanet","id":"88616","properties":[{"key":"Disease","value":"Autosomal recessive non-syndromic intellectual disability"}]},{"database":"Orphanet","id":"208447","properties":[{"key":"Disease","value":"Bilateral generalized polymicrogyria"}]},{"database":"Orphanet","id":"1934","properties":[{"key":"Disease","value":"Early infantile developmental and epileptic encephalopathy"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000176884","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG4440","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000158016","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_007257_2_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"AADQNKM","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"5984008at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q05586","properties":[{"key":"Number of GO annotations","value":"10 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-3928662","properties":[{"key":"PathwayName","value":"EPHB-mediated forward signaling"}]},{"database":"Reactome","id":"R-HSA-438066","properties":[{"key":"PathwayName","value":"Unblocking of NMDA receptors, glutamate binding and activation"}]},{"database":"Reactome","id":"R-HSA-442982","properties":[{"key":"PathwayName","value":"Ras activation upon Ca2+ influx through NMDA receptor"}]},{"database":"Reactome","id":"R-HSA-5673001","properties":[{"key":"PathwayName","value":"RAF/MAP kinase cascade"}]},{"database":"Reactome","id":"R-HSA-6794361","properties":[{"key":"PathwayName","value":"Neurexins and neuroligins"}]},{"database":"Reactome","id":"R-HSA-8849932","properties":[{"key":"PathwayName","value":"Synaptic adhesion-like molecules"}]},{"database":"Reactome","id":"R-HSA-9609736","properties":[{"key":"PathwayName","value":"Assembly and cell surface presentation of NMDA receptors"}]},{"database":"Reactome","id":"R-HSA-9617324","properties":[{"key":"PathwayName","value":"Negative regulation of NMDA receptor-mediated neuronal transmission"}]},{"database":"Reactome","id":"R-HSA-9620244","properties":[{"key":"PathwayName","value":"Long-term potentiation"}]},{"database":"SignaLink","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000176884","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"2902","properties":[{"key":"hits","value":"9 hits in 1151 CRISPR screens"}]},{"database":"CD-CODE","id":"FB4E32DD","properties":[{"key":"EntryName","value":"Presynaptic clusters and postsynaptic densities"}]},{"database":"ChiTaRS","id":"GRIN1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"GeneWiki","id":"GRIN1","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"2902","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q05586","properties":[{"key":"DevelopmentLevel","value":"Tclin"}]},{"database":"PRO","id":"PR:Q05586","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"RNAct","id":"Q05586","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000176884","properties":[{"key":"ExpressionPatterns","value":"Expressed in right hemisphere of cerebellum and 167 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q05586","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0009986","properties":[{"key":"GoTerm","value":"C:cell surface"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"17526495"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"17526495"}]},{"database":"GO","id":"GO:0030425","properties":[{"key":"GoTerm","value":"C:dendrite"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10749211"}]},{"database":"GO","id":"GO:0043197","properties":[{"key":"GoTerm","value":"C:dendritic spine"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0005789","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum membrane"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0060076","properties":[{"key":"GoTerm","value":"C:excitatory synapse"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0043005","properties":[{"key":"GoTerm","value":"C:neuron projection"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0098878","properties":[{"key":"GoTerm","value":"C:neurotransmitter receptor complex"},{"key":"GoEvidenceType","value":"IDA:UniProt"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38598639"}]},{"database":"GO","id":"GO:0017146","properties":[{"key":"GoTerm","value":"C:NMDA selective glutamate receptor complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10480938"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17047094"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7679115"}]},{"database":"GO","id":"GO:0005886","properties":[{"key":"GoTerm","value":"C:plasma membrane"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28095420"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28228639"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38538865"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7685113"}]},{"database":"GO","id":"GO:0014069","properties":[{"key":"GoTerm","value":"C:postsynaptic density"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0098839","properties":[{"key":"GoTerm","value":"C:postsynaptic density membrane"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0045211","properties":[{"key":"GoTerm","value":"C:postsynaptic membrane"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0042734","properties":[{"key":"GoTerm","value":"C:presynaptic membrane"},{"key":"GoEvidenceType","value":"ISS:UniProt"}]},{"database":"GO","id":"GO:0045202","properties":[{"key":"GoTerm","value":"C:synapse"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043083","properties":[{"key":"GoTerm","value":"C:synaptic cleft"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0097060","properties":[{"key":"GoTerm","value":"C:synaptic membrane"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0008021","properties":[{"key":"GoTerm","value":"C:synaptic vesicle"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043195","properties":[{"key":"GoTerm","value":"C:terminal bouton"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0001540","properties":[{"key":"GoTerm","value":"F:amyloid-beta binding"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}]},{"database":"GO","id":"GO:0005509","properties":[{"key":"GoTerm","value":"F:calcium ion binding"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005516","properties":[{"key":"GoTerm","value":"F:calmodulin binding"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0016595","properties":[{"key":"GoTerm","value":"F:glutamate binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7685113"}]},{"database":"GO","id":"GO:0022849","properties":[{"key":"GoTerm","value":"F:glutamate-gated calcium ion channel activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7679115"}]},{"database":"GO","id":"GO:0016594","properties":[{"key":"GoTerm","value":"F:glycine binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7685113"}]},{"database":"GO","id":"GO:0160212","properties":[{"key":"GoTerm","value":"F:glycine-gated cation channel activity"},{"key":"GoEvidenceType","value":"ISS:UniProt"}]},{"database":"GO","id":"GO:0015276","properties":[{"key":"GoTerm","value":"F:ligand-gated monoatomic ion channel activity"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0015280","properties":[{"key":"GoTerm","value":"F:ligand-gated sodium channel activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21376300"}]},{"database":"GO","id":"GO:0004972","properties":[{"key":"GoTerm","value":"F:NMDA glutamate receptor activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"27164704"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28095420"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28105280"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28228639"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38538865"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7681588"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7685113"}]},{"database":"GO","id":"GO:0044877","properties":[{"key":"GoTerm","value":"F:protein-containing complex binding"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}]},{"database":"GO","id":"GO:0038023","properties":[{"key":"GoTerm","value":"F:signaling receptor activity"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0007420","properties":[{"key":"GoTerm","value":"P:brain development"},{"key":"GoEvidenceType","value":"NAS:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17526495"}]},{"database":"GO","id":"GO:0055074","properties":[{"key":"GoTerm","value":"P:calcium ion homeostasis"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0097553","properties":[{"key":"GoTerm","value":"P:calcium ion transmembrane import into cytosol"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26875626"}]},{"database":"GO","id":"GO:0070588","properties":[{"key":"GoTerm","value":"P:calcium ion transmembrane transport"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26919761"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28126851"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7679115"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7681588"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7685113"}]},{"database":"GO","id":"GO:0007268","properties":[{"key":"GoTerm","value":"P:chemical synaptic transmission"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0098976","properties":[{"key":"GoTerm","value":"P:excitatory chemical synaptic transmission"},{"key":"GoEvidenceType","value":"NAS:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17526495"}]},{"database":"GO","id":"GO:0060079","properties":[{"key":"GoTerm","value":"P:excitatory postsynaptic potential"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0035235","properties":[{"key":"GoTerm","value":"P:ionotropic glutamate receptor signaling pathway"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"28228639"}]},{"database":"GO","id":"GO:0098655","properties":[{"key":"GoTerm","value":"P:monoatomic cation transmembrane transport"},{"key":"GoEvidenceType","value":"IDA:UniProt"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"24272827"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26875626"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38538865"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"9489750"}]},{"database":"GO","id":"GO:0006812","properties":[{"key":"GoTerm","value":"P:monoatomic cation transport"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7685113"}]},{"database":"GO","id":"GO:0010524","properties":[{"key":"GoTerm","value":"P:positive regulation of calcium ion transport into cytosol"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}]},{"database":"GO","id":"GO:2000463","properties":[{"key":"GoTerm","value":"P:positive regulation of excitatory postsynaptic potential"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:1903428","properties":[{"key":"GoTerm","value":"P:positive regulation of reactive oxygen species biosynthetic process"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}]},{"database":"GO","id":"GO:0051968","properties":[{"key":"GoTerm","value":"P:positive regulation of synaptic transmission, glutamatergic"},{"key":"GoEvidenceType","value":"ISS:ComplexPortal"}]},{"database":"GO","id":"GO:0045944","properties":[{"key":"GoTerm","value":"P:positive regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0018964","properties":[{"key":"GoTerm","value":"P:propylene metabolic process"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0051290","properties":[{"key":"GoTerm","value":"P:protein heterotetramerization"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0042391","properties":[{"key":"GoTerm","value":"P:regulation of membrane potential"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17047094"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7679115"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7685113"}]},{"database":"GO","id":"GO:1904062","properties":[{"key":"GoTerm","value":"P:regulation of monoatomic cation transmembrane transport"},{"key":"GoEvidenceType","value":"ISS:ComplexPortal"}]},{"database":"GO","id":"GO:0048168","properties":[{"key":"GoTerm","value":"P:regulation of neuronal synaptic plasticity"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15003177"}]},{"database":"GO","id":"GO:0048167","properties":[{"key":"GoTerm","value":"P:regulation of synaptic plasticity"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0045471","properties":[{"key":"GoTerm","value":"P:response to ethanol"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18445116"}]},{"database":"GO","id":"GO:1905429","properties":[{"key":"GoTerm","value":"P:response to glycine"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28105280"}]},{"database":"GO","id":"GO:0035725","properties":[{"key":"GoTerm","value":"P:sodium ion transmembrane transport"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7679115"}]},{"database":"GO","id":"GO:0008542","properties":[{"key":"GoTerm","value":"P:visual learning"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"CDD","id":"cd06379","properties":[{"key":"EntryName","value":"PBP1_iGluR_NMDA_NR1"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd13719","properties":[{"key":"EntryName","value":"PBP2_iGluR_NMDA_Nr1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.190.10:FF:000010","properties":[{"key":"EntryName","value":"glutamate receptor ionotropic, NMDA 1 isoform X1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.2300:FF:000025","properties":[{"key":"EntryName","value":"glutamate receptor ionotropic, NMDA 1 isoform X1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.190.10:FF:000012","properties":[{"key":"EntryName","value":"glutamate receptor ionotropic, NMDA 1 isoform X2"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.2300:FF:000053","properties":[{"key":"EntryName","value":"glutamate receptor ionotropic, NMDA 1 isoform X2"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.190.10:FF:000025","properties":[{"key":"EntryName","value":"glutamate receptor ionotropic, NMDA 1 isoform X3"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"1.10.287.70:FF:000087","properties":[{"key":"EntryName","value":"glutamate receptor ionotropic, NMDA 1 isoform X4"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"1.10.287.70","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.2300","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"2"}]},{"database":"Gene3D","id":"3.40.190.10","properties":[{"key":"EntryName","value":"Periplasmic binding protein-like II"},{"key":"MatchStatus","value":"3"}]},{"database":"InterPro","id":"IPR001828","properties":[{"key":"EntryName","value":"ANF_lig-bd_rcpt"}]},{"database":"InterPro","id":"IPR019594","properties":[{"key":"EntryName","value":"Glu/Gly-bd"}]},{"database":"InterPro","id":"IPR001508","properties":[{"key":"EntryName","value":"Iono_Glu_rcpt_met"}]},{"database":"InterPro","id":"IPR015683","properties":[{"key":"EntryName","value":"Ionotropic_Glu_rcpt"}]},{"database":"InterPro","id":"IPR001320","properties":[{"key":"EntryName","value":"Iontro_rcpt_C"}]},{"database":"InterPro","id":"IPR049872","properties":[{"key":"EntryName","value":"NMDA1-like_ligand-bd"}]},{"database":"InterPro","id":"IPR049873","properties":[{"key":"EntryName","value":"NMDA1-like_N"}]},{"database":"InterPro","id":"IPR028082","properties":[{"key":"EntryName","value":"Peripla_BP_I"}]},{"database":"PANTHER","id":"PTHR18966","properties":[{"key":"EntryName","value":"IONOTROPIC GLUTAMATE RECEPTOR"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF01094","properties":[{"key":"EntryName","value":"ANF_receptor"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00060","properties":[{"key":"EntryName","value":"Lig_chan"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF10613","properties":[{"key":"EntryName","value":"Lig_chan-Glu_bd"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR00177","properties":[{"key":"EntryName","value":"NMDARECEPTOR"}]},{"database":"SMART","id":"SM00918","properties":[{"key":"EntryName","value":"Lig_chan-Glu_bd"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00079","properties":[{"key":"EntryName","value":"PBPe"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53822","properties":[{"key":"EntryName","value":"Periplasmic binding protein-like I"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53850","properties":[{"key":"EntryName","value":"Periplasmic binding protein-like II"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF81324","properties":[{"key":"EntryName","value":"Voltage-gated potassium channels"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTMRLLTLALLFSCSVARAACDPKIVNIGAVLSTRKHEQMFREAVNQANKRHGSWKIQLNATSVTHKPNAIQMALSVCEDLISSQVYAILVSHPPTPNDHFTPTPVSYTAGFYRIPVLGLTTRMSIYSDKSIHLSFLRTVPPYSHQSSVWFEMMRVYSWNHIILLVSDDHEGRAAQKRLETLLEERESKAEKVLQFDPGTKNVTALLMEAKELEARVIILSASEDDAATVYRAAAMLNMTGSGYVWLVGEREISGNALRYAPDGILGLQLINGKNESAHISDAVGVVAQAVHELLEKENITDPPRGCVGNTNIWKTGPLFKRVLMSSKYADGVTGRVEFNEDGDRKFANYSIMNLQNRKLVQVGIYNGTHVIPNDRKIIWPGGETEKPRGYQMSTRLKIVTIHQEPFVYVKPTLSDGTCKEEFTVNGDPVKKVICTGPNDTSPGSPRHTVPQCCYGFCIDLLIKLARTMNFTYEVHLVADGKFGTQERVNNSNKKEWNGMMGELLSGQADMIVAPLTINNERAQYIEFSKPFKYQGLTILVKKEIPRSTLDSFMQPFQSTLWLLVGLSVHVVAVMLYLLDRFSPFGRFKVNSEEEEEDALTLSSAMWFSWGVLLNSGIGEGAPRSFSARILGMVWAGFAMIIVASYTANLAAFLVLDRPEERITGINDPRLRNPSDKFIYATVKQSSVDIYFRRQVELSTMYRHMEKHNYESAAEAIQAVRDNKLHAFIWDSAVLEFEASQKCDLVTTGELFFRSGFGIGMRKDSPWKQNVSLSILKSHENGFMEDLDKTWVRYQECDSRSNAPATLTFENMAGVFMLVAGGIVAGIFLIFIEIAYKRHKDARRKQMQLAFAAVNVWRKNLQDRKSGRAEPDPKKKATFRAITSTLASSFKRRRSSKDTSTGGGRGALQNQKDTVLPRRAIEREEGQLQLCSRHRES","length":938,"molWeight":105373,"crc64":"CDF5402769E530AB","md5":"8AE7CC6B3BC151E9D459C565899A4998"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":3,"ACTIVITY REGULATION":1,"SUBUNIT":1,"INTERACTION":26,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":7,"DOMAIN":4,"PTM":2,"DISEASE":3,"SIMILARITY":1,"WEB RESOURCE":1},"countByFeatureType":{"Signal":1,"Chain":1,"Topological domain":5,"Transmembrane":3,"Intramembrane":1,"Region":2,"Compositional bias":1,"Binding site":5,"Modified residue":4,"Glycosylation":12,"Disulfide bond":4,"Cross-link":1,"Alternative sequence":7,"Natural variant":38,"Mutagenesis":5,"Sequence conflict":2,"Beta strand":50,"Helix":36,"Turn":9},"uniParcId":"UPI0000130282"}}