Protein Details: Glutamate receptor ionotropic;NMDA 1

Protein ID

ICDB_Pro_0762

Protein Name

Glutamate receptor ionotropic;NMDA 1

Gene Name

GRIN1; NMDAR1

Organism

Homo sapiens (Human)

Length

938 amino acids

AlphaFoldDB

AF-Q05586-F1-model_v4.pdb

Function

Component of NMDA receptor complexes that function as heterotetrameric;ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit;glycine binding to the zeta subunit;plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition.

Sequence

MSTMRLLTLALLFSCSVARAACDPKIVNIGAVLSTRKHEQMFREAVNQANKRHGSWKIQLNATSVTHKPNAIQMALSVCEDLISSQVYAILVSHPPTPNDHFTPTPVSYTAGFYRIPVLGLTTRMSIYSDKSIHLSFLRTVPPYSHQSSVWFEMMRVYSWNHIILLVSDDHEGRAAQKRLETLLEERESKAEKVLQFDPGTKNVTALLMEAKELEARVIILSASEDDAATVYRAAAMLNMTGSGYVWLVGEREISGNALRYAPDGILGLQLINGKNESAHISDAVGVVAQAVHELLEKENITDPPRGCVGNTNIWKTGPLFKRVLMSSKYADGVTGRVEFNEDGDRKFANYSIMNLQNRKLVQVGIYNGTHVIPNDRKIIWPGGETEKPRGYQMSTRLKIVTIHQEPFVYVKPTLSDGTCKEEFTVNGDPVKKVICTGPNDTSPGSPRHTVPQCCYGFCIDLLIKLARTMNFTYEVHLVADGKFGTQERVNNSNKKEWNGMMGELLSGQADMIVAPLTINNERAQYIEFSKPFKYQGLTILVKKEIPRSTLDSFMQPFQSTLWLLVGLSVHVVAVMLYLLDRFSPFGRFKVNSEEEEEDALTLSSAMWFSWGVLLNSGIGEGAPRSFSARILGMVWAGFAMIIVASYTANLAAFLVLDRPEERITGINDPRLRNPSDKFIYATVKQSSVDIYFRRQVELSTMYRHMEKHNYESAAEAIQAVRDNKLHAFIWDSAVLEFEASQKCDLVTTGELFFRSGFGIGMRKDSPWKQNVSLSILKSHENGFMEDLDKTWVRYQECDSRSNAPATLTFENMAGVFMLVAGGIVAGIFLIFIEIAYKRHKDARRKQMQLAFAAVNVWRKNLQDRKSGRAEPDPKKKATFRAITSTLASSFKRRRSSKDTSTGGGRGALQNQKDTVLPRRAIEREEGQLQLCSRHRES

PDB Structures

2HQW 2NR1 3BYA 5H8F 5H8H 5H8N 5H8Q 5I2K 5I2N 5KCJ 5KDT 5TP9 5TPA 6IRA 6IRF 6IRG 6IRH 7EOQ 7EOR 7EOS 7EOT 7EOU 7EU7 7EU8 7YFF 7YFL 7YFM 7YFO 7YFR 8E92 8E93 8E94 8E96 8E97 8E98 8E99 8UUE

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

BINDING 516..518; /ligand="glycine"; BINDING 523; /ligand="glycine"; BINDING 688; /ligand="glycine"; BINDING 732; /ligand="glycine"

Disease

Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures;Autosomal Dominant and Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures;Autosomal Recessive

Location

DOI ID

10.1016/0378-1119(93)90309-q; 10.1016/s0021-9258(18)53754-6; 10.1073/pnas.90.11.5057; 10.1016/0378-1119(95)00044-7; 10.1046/j.1471-4159.1997.69020485.x; 10.1038/nature02465; 10.1016/0378-1119(94)90089-2; 10.1073/pnas.90.6.2174; 10.1038/364070a0; 10.1097/wnr.0b013e328317f05f; 10.15252/embj.201593070; 10.1124/mol.116.106781; 10.1038/7610; 10.1021/acs.jmedchem.5b02010; 10.1016/j.neuron.2016.01.016; 10.1021/acsmedchemlett.6b00388; 10.1016/j.ajhg.2011.02.001; 10.1038/tp.2011.52; 10.1136/jmedgenet-2014-102554; 10.1111/epi.12987; 10.1212/wnl.0000000000002740; 10.1038/ejhg.2016.163; 10.1016/j.ejmg.2017.04.001; 10.1038/jhg.2017.19; 10.1371/journal.pgen.1006536; 10.1002/ajmg.a.62528

RefSeq

NP_000823.4 [Q05586-2]; NP_001172019.1 [Q05586-6]; NP_001172020.1 [Q05586-7]; NP_015566.1 [Q05586-1]; NP_067544.1 [Q05586-3]; XP_005266128.1 [Q05586-4]; XP_005266130.1 [Q05586-5]