NMDA 1 Receptor (NMDAR1, N-methyl-D-aspartate) (AP)

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]

NMDAR1: a subunit of N-methyl-D-aspartate (NMDA) receptors, members of the glutamate receptor channel superfamily. Possesses high calcium permeability and voltage-dependent sensitivity to magnesium and is modulated by glycine. Plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. Mediates neuronal functions in glutamate neurotransmission. Three alternatively-spliced isoforms have been described.

Protein type: Membrane protein, multi-pass; Channel, calcium; Channel, ligand-gated; Membrane protein, integral

Chromosomal Location of Human Ortholog: 9q34.3

Cellular Component: neuron projection; cell surface; endoplasmic reticulum; integral to plasma membrane; dendrite; postsynaptic density; dendritic spine; excitatory synapse; terminal button; N-methyl-D-aspartate selective glutamate receptor complex; postsynaptic membrane; synaptic vesicle; plasma membrane; synapse; cell junction

Molecular Function: voltage-gated cation channel activity; neurotransmitter binding; glutamate receptor binding; calcium channel activity; calcium ion binding; calmodulin binding; protein binding; enzyme binding; extracellular-glutamate-gated ion channel activity; glutamate binding; protein heterodimerization activity; N-methyl-D-aspartate selective glutamate receptor activity; glycine binding

Biological Process: regulation of long-term neuronal synaptic plasticity; axon guidance; male mating behavior; prepulse inhibition; adult locomotory behavior; positive regulation of apoptosis; regulation of dendrite morphogenesis; rhythmic process; response to morphine; regulation of axonogenesis; sensory perception of pain; calcium ion homeostasis; synaptic transmission; regulation of respiratory gaseous exchange; conditioned taste aversion; ephrin receptor signaling pathway; visual learning; negative regulation of neuron apoptosis; protein tetramerization; cation transport; synaptic transmission, glutamatergic; response to amphetamine; social behavior; respiratory gaseous exchange; pons maturation; cellular calcium ion homeostasis; regulation of membrane potential; response to ethanol; regulation of synaptogenesis; long-term memory; suckling behavior; olfactory learning; propylene metabolic process; ionotropic glutamate receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; cerebral cortex development; regulation of excitatory postsynaptic membrane potential; response to calcium ion

Disease: Mental Retardation, Autosomal Dominant 8