Human Gene GRIK1 (uc002yno.1) Description and Page Index
Description: Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. RefSeq Summary (NM_000830): Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr21:30,925,866-31,312,282 Size: 386,417 Total Exon Count: 17 Strand: - Coding Region Position: hg19 chr21:30,925,876-31,311,818 Size: 385,943 Coding Exon Count: 17
ID:GRIK1_HUMAN DESCRIPTION: RecName: Full=Glutamate receptor, ionotropic kainate 1; AltName: Full=Excitatory amino acid receptor 3; Short=EAA3; AltName: Full=Glutamate receptor 5; Short=GluR-5; Short=GluR5; Flags: Precursor; FUNCTION: Ionotropic glutamate receptor. 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. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. SUBUNIT: Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers (Probable). The unedited version (Q) assembles into a functional kainate-gated homomeric channel, whereas the edited version (R) is unable to produce channel activity when expressed alone. Both edited and unedited versions can form functional channels with GRIK4 and GRIK5. Interacts with KLHL17 (By similarity). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Most abundant in the cerebellum and the suprachiasmatic nuclei (SCN) of the hypothalamus. RNA EDITING: Modified_positions=636; Note=Partially edited. MISCELLANEOUS: The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate > L-glutamate = quisqualate > CNQX = DNQX > AMPA > dihydrokainate > NMDA. SIMILARITY: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK1 subfamily.
Genetic Association Studies of Complex Diseases and Disorders
Attention Deficit Disorder with Hyperactivity Jessica Lasky-Su et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2008, Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic.
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Mass Index Ke-Sheng Wang et al. Gene 2012, A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies., Gene.
We identified a novel locus for BMI. These findings offer the potential for new insights into the pathogenesis of BMI and obesity and will serve as a resource for replication in other populations to elucidate the potential role of these genetic variants in BMI and obesity.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00060 - Ligand-gated ion channel PF00497 - Bacterial extracellular solute-binding proteins, family 3 PF01094 - Receptor family ligand binding region PF10613 - Ligated ion channel L-glutamate- and glycine-binding site
SCOP Domains: 53822 - Periplasmic binding protein-like I 53850 - Periplasmic binding protein-like II
ModBase Predicted Comparative 3D Structure on P39086
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.