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MGP001322

UniProt Annotations

Entry Information
Gene Nameglutamate receptor, ionotropic, N-methyl D-aspartate 1
Protein EntryNMDZ1_HUMAN
UniProt IDQ05586
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=3; Synonyms=Long, NR1-3; IsoId=Q05586-1; Sequence=Displayed; Name=1; Synonyms=Short, NR1-1; IsoId=Q05586-2; Sequence=VSP_000137, VSP_000138; Name=2; Synonyms=Medium, NR1-2; IsoId=Q05586-3; Sequence=VSP_000139; Name=4; IsoId=Q05586-4; Sequence=VSP_011778, VSP_011779; Name=5; IsoId=Q05586-5; Sequence=VSP_011777; Name=6; IsoId=Q05586-6; Sequence=VSP_011777, VSP_011778, VSP_011779; Name=7; IsoId=Q05586-7; Sequence=VSP_011777, VSP_045464;
DiseaseMental retardation, autosomal dominant 8 (MRD8) [MIM:614254]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionNMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors (By similarity). {ECO:0000250}.
InteractionQ62936:Dlg3 (xeno); NbExp=3; IntAct=EBI-8286218, EBI-349596;
PtmNMDA is probably regulated by C-terminal phosphorylation of an isoform of NR1 by PKC. Dephosphorylated on Ser-897 probably by protein phosphatase 2A (PPP2CB). Its phosphorylated state is influenced by the formation of the NMDAR-PPP2CB complex and the NMDAR channel activity. {ECO:0000269|PubMed:8316301}.
SimilarityBelongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities. {ECO:0000250}.
SubunitForms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B); disulfide-linked. Found in a complex with GRIN2A or GRIN2B, GRIN3A or GRIN3B and PPP2CB. Interacts with DLG4 and MPDZ. 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 LRFN1 and LRFN2 (By similarity). Interacts with MYZAP. {ECO:0000250, ECO:0000269|PubMed:18849881}.
Web ResourceName=Wikipedia; Note=NMDA receptor entry; URL="http://en.wikipedia.org/wiki/NMDA_receptor";
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