GRIK1

Description

The GRIK1 (glutamate ionotropic receptor kainate type subunit 1) is a protein-coding gene located on chromosome 21.

GRIK1, encoded by the GRIK1 gene, is a protein that functions as a subunit of ionotropic glutamate receptors, specifically the kainate receptor subtype. These receptors play a vital role in excitatory neurotransmission and are crucial for proper synaptic function. The formation and intracellular movement of these receptors are influenced by RNA editing and alternative splicing. Two distinct isoforms are encoded by alternatively spliced transcripts. The exons of this gene are interwoven with exons from the C21orf41 gene, which is transcribed in the same direction but does not appear to encode a protein. GRIK1 is known to interact with DLG4, PICK1, and SDCBP. RNA editing, specifically A to I editing, occurs in GRIK1. This process involves adenosine deaminases acting on RNA (ADARs), which convert adenosines within double-stranded regions of pre-mRNAs into inosine. Inosine is recognized by the cell's translation machinery as guanosine.

GRIK1 is an ionotropic glutamate receptor that plays a crucial role in excitatory neurotransmission within the central nervous system. It responds to the binding of L-glutamate, a primary excitatory neurotransmitter, by undergoing a conformational change that opens its cation channel. This allows for the conversion of chemical signals into electrical impulses. The receptor then rapidly desensitizes and enters a temporary inactive state while the agonist remains bound. GRIK1 is believed to be involved in the transmission of light information from the retina to the hypothalamus.

GRIK1 is also known as EAA3, EEA3, GLR5, GLUR5, GluK1, gluR-5.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing