AlphaFold predicted structure
GRIA1 · P42261

Mean pLDDT
81.0/ 100
Confident
906 residues
Confidence breakdown
- Very high(≥ 90)47%
- Confident(70–90)34%
- Low(50–70)7%
- Very low(< 50)12%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
glutamate ionotropic receptor AMPA type subunit 1
Annotations refreshed 8 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedintellectual developmental disorder, autosomal dominant 67
epilepsy
migraine disorder
alcohol dependence
Seizure
Lennox-Gastaut syndrome
obesity disorder
focal epilepsy
schizophrenia
diabetic neuropathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Glutamate receptor 1
Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (PubMed:1311100, PubMed:20805473, PubMed:21172611, PubMed:28628100, PubMed:35675825). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse upon entry of monovalent and divalent cations such as sodium and calcium. The receptor then desensitizes rapidly and enters in a transient inactive state, characterized by the presence of bound agonist (By similarity). In the presence of CACNG2 or CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of L-glutamate (PubMed:21172611). Resensitization is blocked by CNIH2 through interaction with CACNG8 in the CACNG8-containing AMPA receptors complex (PubMed:21172611). Calcium (Ca(2+)) permeability depends on subunits composition and, heteromeric channels containing edited GRIA2 subunit are calcium-impermeable. Also permeable to other divalents cations such as strontium(2+) and magnesium(2+) and monovalent cations such as potassium(1+) and lithium(1+) (By similarity)
Curated MONDO disease pages that list GRIA1 among their top associated genes.
GRIA1 · P42261

Mean pLDDT
81.0/ 100
Confident
906 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0