GRID1 Gene - Glutamate Ionotropic Receptor Delta Type Subunit 1
Comprehensive genomic and functional analysis of GRID1, a member of the ionotropic glutamate receptor family implicated in neurodevelopmental disorders.
Gene Information Card
| Symbol | GRID1 |
|---|---|
| Full Name | glutamate ionotropic receptor delta type subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 2894 ncbi.nlm.nih.gov/gene/2894 |
| Ensembl ID | ENSG00000119922 |
| UniProt ID | Q9ULK0 |
| OMIM ID | 610659 |
| HGNC ID | 4575 |
| Aliases | GluD1, GluR delta-1, MGC138237 |
Description
GRID1 encodes the glutamate ionotropic receptor delta type subunit 1 (GluD1), a member of the ionotropic glutamate receptor family. Unlike other ionotropic glutamate receptors, GluD1 does not form functional ion channels but is involved in synaptic organization and plasticity. It is highly expressed in the central nervous system and has been implicated in neurodevelopmental disorders such as schizophrenia and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Genetic association studies link GRID1 variants to altered glutamatergic signaling and synaptic dysfunction. | Multiple genome-wide association studies (GWAS) and meta-analyses (e.g., PMID: 19571815, PMID: 20468064) |
| Autism Spectrum Disorder | Rare copy number variants and missense mutations in GRID1 are associated with ASD risk. | Case-control studies and exome sequencing (e.g., PMID: 22495306, PMID: 25363760) |
| Intellectual Disability | De novo mutations in GRID1 have been reported in individuals with intellectual disability. | Whole-exome sequencing studies (e.g., PMID: 25363760) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Brain (cortex) | 8.2 | Low |
| Brain (hippocampus) | 7.9 | Low |
| Testis | 1.1 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.4 | Low expression |
| U-87 MG (glioblastoma) | 1.2 | Not detected |
| HEK 293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1972C>T (p.Arg658Cys) | Missense | Rare | Alters ligand-binding domain; associated with ASD |
| c.2446G>A (p.Gly816Arg) | Missense | Rare | Impairs synaptic localization; linked to intellectual disability |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | Very rare | Loss-of-function; reported in schizophrenia |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Lys412Glufs*3) lead to truncated protein and loss of normal synaptic function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in GRID1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg658Cys) may exert dominant-negative effects by disrupting GluD1 dimerization or trafficking.
View complete mutation data：
Gene Ontology (GO)
Pathways
• UniProt: Glutamatergic synapse (KEGG: hsa04724)
• UniProt: Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The GluD1 protein is a 1009-amino acid transmembrane receptor with an extracellular N-terminal domain, a ligand-binding domain, and a C-terminal intracellular region. It does not form functional ion channels but interacts with presynaptic neurexins and postsynaptic scaffolds to regulate synapse formation and plasticity. GluD1 is predominantly expressed in cerebellar Purkinje cells and hippocampal neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRID1 Knockout HEK293 Cell Line | EDJ-KQ4790 | Human | 2894 | Details Get a Quote |
| GRID1 Knockout HCT 116 Cell Line | EDJ-KQ27555 | Human | 2894 | Details Get a Quote |
| GRID1 Knockout HeLa Cell Line | EDJ-KQ53423 | Human | 2894 | Details Get a Quote |
| GRID1 Knockout A-549 Cell Line | EDJ-KQ61899 | Human | 2894 | Details Get a Quote |
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