GRIN1
The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Full Name
Glutamate Ionotropic Receptor NMDA Type Subunit 1
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 Mg2+ (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280).
Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).
Biological Process
Brain development Source: ARUK-UCL
Calcium ion homeostasis Source: UniProtKB
Calcium ion transmembrane import into cytosol Source: UniProtKB
Cation transport Source: UniProtKB
Chemical synaptic transmission Source: GO_Central
Excitatory chemical synaptic transmission Source: ARUK-UCL
Excitatory postsynaptic potential Source: UniProtKB
Ionotropic glutamate receptor signaling pathway Source: UniProtKB
Positive regulation of calcium ion transport into cytosol Source: ARUK-UCL
Positive regulation of cysteine-type endopeptidase activity Source: ARUK-UCL
Positive regulation of excitatory postsynaptic potential Source: BHF-UCL
Positive regulation of reactive oxygen species biosynthetic process Source: ARUK-UCL
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Propylene metabolic process Source: BHF-UCL
Protein heterotetramerization Source: UniProtKB
Regulation of membrane potential Source: UniProtKB
Regulation of synaptic plasticity Source: ARUK-UCL
Response to ethanol Source: UniProtKB
Response to glycine Source: UniProtKB
Visual learning Source: UniProtKB
Cellular Location
Cell membrane; Postsynaptic cell membrane; Postsynaptic density. Enriched in postsynaptic plasma membrane and postsynaptic densities.
Involvement in disease
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD):
An autosomal dominant neurodevelopmental disorder characterized by severe mental retardation and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR):
An autosomal recessive neurodevelopmental disorder characterized by severe mental retardation and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients.
Topology
Extracellular: 19-559
Helical: 560-580
Cytoplasmic: 581-602
Discontinuously helical: 603-624
Cytoplasmic: 625-630
Helical: 631-647
Extracellular: 648-812
Helical: 813-833
Cytoplasmic: 834-938
PTM
NMDA 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.
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Datasheet