GRIA1
entrez
2890
canonical
uniprot
P42261
canonical
ensembl
ENSG00000155511
resolver
ensp
ENSP00000285900
resolver
ensp
ENSP00000339343
resolver
ensp
ENSP00000415569
resolver
ensp
ENSP00000427864
resolver
ensp
ENSP00000427920
resolver
ensp
ENSP00000428994
resolver
ensp
ENSP00000516521
resolver
enst
ENST00000706734
resolver
genesymbol
GRIA1
resolver
genesymbol_syn
GLUA1
resolver
genesymbol_syn
GLUH1
resolver
genesymbol_syn
GLUR1
resolver
hgnc
HGNC:4571
resolver
uniprot
A0A9L9PXG3
resolver
uniprot
B7Z2S0
resolver
uniprot
B7Z2W8
resolver
uniprot
B7Z3F6
resolver
uniprot
B7Z9G9
resolver
uniprot
D3DQI4
resolver
uniprot
E7ESV8
resolver
uniprot
Q2NKM6
resolver
uniprot
Q59GL5
resolver
uniprot_entry
A0A9L9PXG3_HUMAN
resolver
uniprot_entry
GRIA1_HUMAN
resolver
uniprot_entry
Q59GL5_HUMAN
resolver
uniprot_sec
B7Z2S0
resolver
uniprot_sec
B7Z2W8
resolver
uniprot_sec
B7Z3F6
resolver
uniprot_sec
B7Z9G9
resolver
uniprot_sec
D3DQI4
resolver
uniprot_sec
E7ESV8
resolver
uniprot_sec
Q2NKM6
resolver
amino_acid_sequence
MQHIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFALSQLTEPPKLLPQIDIVNISDSFEMTYRFCSQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYDADRGLSVLQKVLDTAAEKNWQVTAVNILTTTEEGYRMLFQDLEKKKERLVVVDCESERLNAILGQIIKLEKNGIGYHYILANLGFMDIDLNKFKESGANVTGFQLVNYTDTIPAKIMQQWKNSDARDHTRVDWKRPKYTSALTYDGVKVMAEAFQSLRRQRIDISRRGNAGDCLANPAVPWGQGIDIQRALQQVRFEGLTGNVQFNEKGRRTNYTLHVIEMKHDGIRKIGYWNEDDKFVPAATDAQAGGDNSSVQNRTYIVTTILEDPYVMLKKNANQFEGNDRYEGYCVELAAEIAKHVGYSYRLEIVSDGKYGARDPDTKAWNGMVGELVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHSEEFEEGRDQTTSDQSNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIAYGTLEAGSTKEFFRRSKIAVFEKMWTYMKSAEPSVFVRTTEEGMIRVRKSKGKYAYLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKGSALRNPVNLAVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYILIGGLGLAMLVALIEFCYKSRSESKRMKGFCLIPQQSINEAIRTSTLPRNSGAGASSGGSGENGRVVSHDFPKSMQSIPCMSHSSGMPLGATGL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 67 (MRD67) [MIM:619927]: An autosomal dominant disorder characterized by global development delay and impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, and language and sleeping difficulties. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:28628100, ECO:0000269|PubMed:35675825}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, autosomal recessive 76 (MRT76) [MIM:619931]: An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, absent speech, seizures, sleep disturbances, and feeding difficulties. {ECO:0000269|PubMed:35675825}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P19490, ECO:0000269|PubMed:1311100, ECO:0000269|PubMed:20805473, ECO:0000269|PubMed:21172611, ECO:0000269|PubMed:28628100, ECO:0000269|PubMed:35675825}.
uniprot
proteins
mass_dalton
101506
uniprot
proteins
post_translational_modification
PTM: Palmitoylated. Depalmitoylated by CPT1C and upon L-glutamate stimulation (PubMed:30135643). ZDHHC3/GODZ specifically palmitoylates Cys-603, which leads to Golgi retention and decreased cell surface expression (PubMed:30135643). In contrast, Cys-829 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). {ECO:0000250|UniProtKB:P23818, ECO:0000269|PubMed:30135643}.; PTM: Phosphorylated at Ser-645. Phosphorylated at Ser-710 by PKC. Phosphorylated at Ser-849 by PKC, PKA and CAMK2. Phosphorylated at Ser-863 by PKC, PKA and PRKG2 (By similarity). Phosphorylation of Ser-863 is reduced by induction of long-term depression and increased by induction of long-term potentiation (By similarity). {ECO:0000250|UniProtKB:P19490, ECO:0000250|UniProtKB:P23818}.
uniprot
proteins
protein_family
GRIA1 subfamily
uniprot
proteins
protein_family
Glutamate-gated ion channel (TC 1.A.10.1) family
uniprot
proteins
pubmed
1311100
uniprot
proteins
pubmed
1320959
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1652753
uniprot
proteins
pubmed
20805473
uniprot
proteins
pubmed
21172611
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
23739980
uniprot
proteins
pubmed
28628100
uniprot
proteins
pubmed
30135643
uniprot
proteins
pubmed
35675825
uniprot
proteins
sequence_length
906
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23739980}; Multi-pass membrane protein {ECO:0000269|PubMed:23739980}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P19490}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19490}. Postsynaptic cell membrane {ECO:0000269|PubMed:23739980}; Multi-pass membrane protein {ECO:0000269|PubMed:23739980}. Postsynaptic density membrane {ECO:0000250|UniProtKB:P23818}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23818}. Cell projection, dendrite {ECO:0000250|UniProtKB:P23818}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P23818}. Early endosome membrane {ECO:0000250|UniProtKB:P19490}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19490}. Recycling endosome membrane {ECO:0000250|UniProtKB:P19490}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19490}. Presynapse {ECO:0000250|UniProtKB:P23818}. Synapse {ECO:0000250|UniProtKB:P23818}. Note=Interaction with CACNG2, CNIH2 and CNIH3 promotes cell surface expression. Colocalizes with PDLIM4 in early endosomes. Displays a somatodendritic localization and is excluded from axons in neurons (By similarity). Localized to cone photoreceptor pedicles (By similarity). {ECO:0000250|UniProtKB:P19490, ECO:0000250|UniProtKB:P23818}.
uniprot
proteins
transmembrane_region
TRANSMEM 537..557; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 610..630; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 806..826; /note="Helical; Name=M4
uniprot
proteins