AlphaFold predicted structure
GRIN1 · Q05586
Mean pLDDT
82.9/ 100
Confident
938 residues
Confidence breakdown
- Very high(≥ 90)55%
- Confident(70–90)29%
- Low(50–70)8%
- Very low(< 50)9%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GRIN1
Chr 9q34.3glutamate ionotropic receptor NMDA type subunit 1
- Aliases:
- GluN1, NR1
- MANE:
- ENST00000371561.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
0.85neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
0.74Alzheimer disease
0.70Parkinson disease
0.69developmental and epileptic encephalopathy 101
0.64infection
0.60influenza
0.60depressive disorder
0.60major depressive disorder
0.59alcohol dependence
0.58
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Glutamate receptor ionotropic, NMDA 1
Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:21376300, PubMed:26875626, PubMed:26919761, PubMed:28126851, PubMed:28228639, PubMed:36959261, PubMed:7679115, PubMed:7681588, PubMed:7685113). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the long-term potentiation (LTP) (PubMed:26875626). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:21376300, PubMed:26875626, PubMed:26919761, PubMed:27164704, PubMed:28095420, PubMed:28105280, PubMed:28126851, PubMed:28228639, PubMed:36959261, PubMed:38538865, PubMed:7679115, PubMed:7681588, PubMed:7685113). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 or GluN3 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:26919761, PubMed:36309015, PubMed:38598639)
Diseases associated with GRIN1
Curated MONDO disease pages that list GRIN1 among their top associated genes.