Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate 1 (GRIN1)

NMDA1; NMDAR1; NR1; Glutamate [NMDA] receptor subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1

SPN	S008
HGNC	4584
MGI	95819
PubMed	19861419
RGD	2736
UniProt	Q05586
Wiki	GRIN1

Glutamate [NMDA] receptor subunit zeta-1 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. The gene consists of 21 exons and is alternatively spliced, producing transcript variants differing in the C-terminus. Although the sequence of exon 5 is identical in human and rat, the alternative exon 5 splicing in rat has yet to be demonstrated in human. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits.

Reference

"Cloning and sequence analysis of cDNAs encoding human hippocampus N-methyl-D-aspartate receptor subunits: evidence for alternative RNA splicing."
Gene 131:293-298(1993) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor."
J. Biol. Chem. 268:3728-3733(1993) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning, functional expression, and pharmacological characterization of an N-methyl-D-aspartate receptor subunit from human brain."
Proc. Natl. Acad. Sci. U.S.A. 90:5057-5061(1993) [PubMed] [Europe PMC] [Abstract]

"Cloning and structure of the gene encoding the human N-methyl-D-aspartate receptor (NMDAR1)."
Gene 159:219-223(1995) [PubMed] [Europe PMC] [Abstract]

"Cloning and localization of exon 5-containing isoforms of the NMDAR1 subunit in human and rat brains."
J. Neurochem. 69:485-493(1997) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"Cloning and sequence analysis of additional splice variants encoding human N-methyl-D-aspartate receptor (hNR1) subunits."
Gene 147:303-304(1994) [PubMed] [Europe PMC] [Abstract]

"Inducible expression of neuronal glutamate receptor channels in the NT2 human cell line."
Proc. Natl. Acad. Sci. U.S.A. 90:2174-2178(1993) [PubMed] [Europe PMC] [Abstract]

"Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain."
Nature 364:70-73(1993) [PubMed] [Europe PMC] [Abstract]

"Appropriate NR1-NR1 disulfide-linked homodimer formation is requisite for efficient expression of functional, cell surface N-methyl-D-aspartate NR1/NR2 receptors."
J. Biol. Chem. 279:14703-14712(2004) [PubMed] [Europe PMC] [Abstract]

"GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity."
NeuroReport 19:1721-1726(2008) [PubMed] [Europe PMC] [Abstract]

"Structures of the M2 channel-lining segments from nicotinic acetylcholine and NMDA receptors by NMR spectroscopy."
Nat. Struct. Biol. 6:374-379(1999) [PubMed] [Europe PMC] [Abstract]

"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability."
Am. J. Hum. Genet. 88:306-316(2011) [PubMed] [Europe PMC] [Abstract]