Aliases for GRIN1 Gene
External Ids for GRIN1 Gene
Previous HGNC Symbols for GRIN1 Gene
Previous GeneCards Identifiers for GRIN1 Gene
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]
GeneCards Summary for GRIN1 Gene
GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1) is a Protein Coding gene. Diseases associated with GRIN1 include Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant and Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and RET signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and signaling receptor binding. An important paralog of this gene is GRIN2A.
UniProtKB/Swiss-Prot Summary for GRIN1 Gene
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+) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).
NMDA receptors are members of the ionotropic class of glutamate receptors, which also includes Kainate and AMPA receptors. NMDA receptors consist of NR1 subunits combined with NR2 (A-D) or NR3 (A-B) subunits. The ligand-gated channel is permeable to cations.