GRIK1 Gene: Glutamate Ionotropic Receptor Kainate Type Subunit 1
Genetic and Functional Insights into GRIK1, a Kainate Receptor Subunit Involved in Neurotransmission and Neurological Disorders
Gene Information Card
| Symbol | GRIK1 |
|---|---|
| Full Name | Glutamate Ionotropic Receptor Kainate Type Subunit 1 |
| Gene Type | protein coding |
| Chromosomal Location | 21q21.3 |
| NCBI Gene ID | 2897 ncbi.nlm.nih.gov/gene/2897 |
| Ensembl ID | ENSG00000171189 |
| UniProt ID | P39086 |
| OMIM ID | 138245 |
| HGNC ID | 4579 |
| Aliases | EAA3, GLUR5, GluK1, MRT7 |
Description
The GRIK1 gene encodes the GluK1 (also known as GluR5) subunit of kainate-type ionotropic glutamate receptors. These receptors are ligand-gated ion channels that mediate excitatory neurotransmission in the central nervous system. GRIK1 is involved in synaptic plasticity, neuronal development, and modulation of neurotransmitter release. Alterations in GRIK1 have been implicated in various neurological and psychiatric conditions, including intellectual disability, epilepsy, and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability (MRT7) | Pathogenic variants in GRIK1 lead to loss of function or altered receptor trafficking, impairing glutamatergic signaling critical for cognitive development. | ClinVar, OMIM |
| Epilepsy | GRIK1 variants may alter neuronal excitability, contributing to seizure susceptibility. | ClinVar, PubMed (via OMIM) |
| Schizophrenia | Genetic association studies suggest GRIK1 polymorphisms may influence risk, possibly via altered glutamatergic neurotransmission. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in brain regions including cortex, hippocampus, and cerebellum. |
| Spinal Cord | Moderate | Present in spinal cord neurons. |
| Testis | Low | Low expression detected in testis. |
| Adrenal Gland | Low | Minimal expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal-like cells show high GRIK1 expression. |
| U-87 MG (glioblastoma) | Moderate | Glial tumor cells express moderate levels. |
| HEK293 (embryonic kidney) | Low | Low endogenous expression; often used for recombinant expression studies. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1699C>T (p.Arg567Ter) | Nonsense | Rare | Loss of function; associated with intellectual disability. |
| c.2203G>A (p.Gly735Arg) | Missense | Rare | Altered receptor function; reported in epilepsy. |
| c.1546A>G (p.Ile516Val) | Missense | Low frequency | Potential functional impact; clinical significance uncertain. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated proteins or nonsense-mediated decay result in haploinsufficiency, impairing kainate receptor function.
Gain of Function (GOF)
Some missense mutations may increase receptor sensitivity or channel open probability, leading to enhanced excitotoxicity.
Dominant Negative (DN)
Certain missense mutations may form non-functional heteromeric receptors, exerting a dominant-negative effect on wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
| • ionotropic glutamate receptor activity | • kainate selective glutamate receptor activity |
| • ligand-gated ion channel activity | • plasma membrane |
| • postsynaptic membrane | • chemical synaptic transmission |
Pathways
• Glutamatergic synapse
• Neuroactive ligand-receptor interaction
• Ionotropic glutamate receptor pathway
Protein Summary
The GRIK1 protein (GluK1) is a subunit of kainate receptors, which are tetrameric ion channels composed of combinations of GluK1-5 subunits. GluK1 can form homomeric or heteromeric receptors with other kainate subunits. Upon glutamate binding, the receptor undergoes conformational changes that open the ion pore, allowing influx of sodium and calcium ions, leading to depolarization. GluK1 is widely expressed in the CNS and plays roles in synaptic plasticity, learning, and memory. Post-translational modifications such as phosphorylation and RNA editing regulate receptor function and trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIK1 Knockout HEK293 Cell Line | EDJ-KQ3135 | Human | 2897 | Details Get a Quote |
| Grik1 Knockout 4T1 Cell Line | EDJ-KZ270 | Mouse | 14805 | Details Get a Quote |
| GRIK1 Knockout HeLa Cell Line | EDJ-KQ53425 | Human | 2897 | Details Get a Quote |
| GRIK1 Knockout A-549 Cell Line | EDJ-KQ61901 | Human | 2897 | Details Get a Quote |
| GRIK1 Knockout HCT 116 Cell Line | EDJ-KQ70381 | Human | 2897 | Details Get a Quote |
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