GRIA4
entrez
2893
canonical
uniprot
P48058
canonical
ensembl
ENSG00000152578
resolver
ensp
ENSP00000282499
resolver
ensp
ENSP00000376833
resolver
ensp
ENSP00000415551
resolver
ensp
ENSP00000432180
resolver
ensp
ENSP00000435775
resolver
ensp
ENSP00000515457
resolver
ensp
ENSP00000516542
resolver
ensp
ENSP00000606240
resolver
ensp
ENSP00000795375
resolver
enst
ENST00000525187
resolver
enst
ENST00000703743
resolver
enst
ENST00000706777
resolver
genesymbol
GRIA4
resolver
genesymbol_syn
GLUR4
resolver
genesymbol_syn
GluA4
resolver
hgnc
HGNC:4574
resolver
uniprot
A0A8D9PH77
resolver
uniprot
A0A994J6J2
resolver
uniprot
G3V164
resolver
uniprot
Q1WWK6
resolver
uniprot
Q86XE8
resolver
uniprot_entry
A0A8D9PH77_HUMAN
resolver
uniprot_entry
A0A994J6J2_HUMAN
resolver
uniprot_entry
G3V164_HUMAN
resolver
uniprot_entry
GRIA4_HUMAN
resolver
uniprot_entry
Q1WWK6_HUMAN
resolver
uniprot_sec
Q86XE8
resolver
amino_acid_sequence
MRIISRQIVLLFSGFWGLAMGAFPSSVQIGGLFIRNTDQEYTAFRLAIFLHNTSPNASEAPFNLVPHVDNIETANSFAVTNAFCSQYSRGVFAIFGLYDKRSVHTLTSFCSALHISLITPSFPTEGESQFVLQLRPSLRGALLSLLDHYEWNCFVFLYDTDRGYSILQAIMEKAGQNGWHVSAICVENFNDVSYRQLLEELDRRQEKKFVIDCEIERLQNILEQIVSVGKHVKGYHYIIANLGFKDISLERFIHGGANVTGFQLVDFNTPMVIKLMDRWKKLDQREYPGSETPPKYTSALTYDGVLVMAETFRSLRRQKIDISRRGNAGDCLANPAAPWGQGIDMERTLKQVRIQGLTGNVQFDHYGRRVNYTMDVFELKSTGPRKVGYWNDMDKLVLIQDVPTLGNDTAAIENRTVVVTTIMESPYVMYKKNHEMFEGNDKYEGYCVDLASEIAKHIGIKYKIAIVPDGKYGARDADTKIWNGMVGELVYGKAEIAIAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHTEEPEDGKEGPSDQPPNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWTYMRSAEPSVFTRTTAEGVARVRKSKGKFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGVATPKGSSLRTPVNLAVLKLSEAGVLDKLKNKWWYDKGECGPKDSGSKDKTSALSLSNVAGVFYILVGGLGLAMLVALIEFCYKSRAEAKRMKLTFSEAIRNKARLSITGSVGENGRVLTPDCPKAVHTGTAIRQSSGLAVIASDLP
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent from infancy or early childhood, mild to profound intellectual disability, hypertonia early in life, which progresses to spasticity and impaired gait later, and behavioral abnormalities. Some patients may develop seizures of variable severity early in life. {ECO:0000269|PubMed:29220673}. 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 (By similarity). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system and plays an important role in fast excitatory synaptic transmission (By similarity). 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 a transient inactive state, characterized by the presence of bound agonist (By similarity). In the presence of CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of L-glutamate (PubMed:21172611). {ECO:0000250|UniProtKB:P19493, ECO:0000250|UniProtKB:P42262, ECO:0000269|PubMed:21172611}.
uniprot
proteins
mass_dalton
100871
uniprot
proteins
post_translational_modification
PTM: Palmitoylated. Depalmitoylated upon L-glutamate stimulation. Cys-611 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-837 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis. {ECO:0000250|UniProtKB:P23819}.; PTM: Phosphorylated at Ser-862 by PRKCG; phosphorylation increases plasma membrane-associated GRI4 expression. {ECO:0000250|UniProtKB:P19493}.
uniprot
proteins
protein_family
GRIA4 subfamily
uniprot
proteins
protein_family
Glutamate-gated ion channel (TC 1.A.10.1) family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21172611
uniprot
proteins
pubmed
29220673
uniprot
proteins
pubmed
8589990
uniprot
proteins
sequence_length
902
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P19493}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19493}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:P19493}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19493}. Cell projection, dendrite {ECO:0000250|UniProtKB:P19493}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:P42262}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P42262}.
uniprot
proteins
transmembrane_region
TRANSMEM 545..565; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 618..638; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 814..834; /note="Helical; Name=M4"; /evidence="ECO:0000250
uniprot
proteins