Recombinant Human Glutamate receptor 3 (GRIA3), partial

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 inducing long-term potentiation (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 calcium (PubMed:17989220). The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:17989220). In the presence of CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate (PubMed:21172611)

Subcellular Location

Cell membrane (Multi-pass membrane protein); Postsynaptic cell membrane (Multi-pass membrane protein); Postsynaptic density membrane

Disease Association

Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) : A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSW patients have moderate intellectual disability, and additional variable features such as macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Homotetramer or heterotetramer of pore-forming glutamate receptor subunits (PubMed:17989220). Tetramers may be formed by the dimerization of dimers. Interacts with PICK1, GRIP1 and GRIP2. Found in a complex with GRIA1, GRIA2, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with CACNG5 (By similarity). Found in a complex with GRIA1, GRIA2, GRIA4, DLG4, CACNG8 and CNIH2 (By similarity)

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• McLaughlin D.P. et al. PubMed: CI-4MJ2FNAJO2GTJ (OCT-)
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• Amir R. et al. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. — Am. J. Med. Genet. (2000)
• Ross M.T. et al. The DNA sequence of the human X chromosome. — Nature (2005)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• Kato A.S. et al. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. — Neuron (2010)
• Philips A.K. et al. X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. — Orphanet J. Rare Dis. (2014)