GRM1 Gene (Glutamate Metabotropic Receptor 1)
Comprehensive guide to GRM1: function, associated diseases, expression, mutations, and pathways.
Gene Information Card
| Symbol | GRM1 |
|---|---|
| Full Name | Glutamate Metabotropic Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.3 |
| NCBI Gene ID | 2911 ncbi.nlm.nih.gov/gene/2911 |
| Ensembl ID | ENSG00000152822 |
| UniProt ID | Q13255 |
| OMIM ID | 604473 |
| HGNC ID | 4593 |
| Aliases | mGluR1, GPRC1A, MGLUR1 |
Description
GRM1 encodes the metabotropic glutamate receptor 1 (mGluR1), a G protein-coupled receptor that modulates synaptic transmission and neuronal excitability. It is activated by glutamate and plays critical roles in long-term potentiation, learning, and motor coordination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia 44 (SCA44) | Gain-of-function mutations in GRM1 lead to increased receptor activity, causing cerebellar degeneration and ataxia. | ClinVar, OMIM |
| Schizophrenia | GRM1 variants and altered expression are associated with glutamatergic dysfunction in schizophrenia. | NCBI, ClinVar |
| Cancer (melanoma, glioma) | Aberrant GRM1 expression promotes tumor growth via MAPK/ERK signaling. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 20.1 | High |
| Cerebral cortex | 8.3 | Medium |
| Testis | 1.2 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.8 | Neuronal model |
| U87MG (glioblastoma) | 3.2 | Glioma cell line |
| HEK293 | 0.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2335C>T (p.Arg779Cys) | Missense | Rare | Gain-of-function; associated with SCA44 |
| c.1942G>A (p.Glu648Lys) | Missense | Rare | Gain-of-function; associated with SCA44 |
| c.1120A>G (p.Thr374Ala) | Missense | Unknown | Potential loss-of-function in schizophrenia |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Thr374Ala) may reduce receptor signaling, implicated in neuropsychiatric disorders.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg779Cys, p.Glu648Lys) enhance receptor activity, causing spinocerebellar ataxia 44.
Dominant Negative (DN)
No dominant-negative mutations reported for GRM1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • glutamate receptor activity |
| • synaptic transmission | • glutamatergic |
| • calcium-mediated signaling | • long-term synaptic potentiation |
Pathways
• Glutamatergic synapse
• Neuroactive ligand-receptor interaction
• MAPK signaling pathway
• Calcium signaling pathway
Protein Summary
The mGluR1 protein is a 1194-amino acid transmembrane receptor with a large extracellular N-terminal domain for glutamate binding, seven transmembrane helices, and a cytoplasmic C-terminal tail. It couples to Gq/11 proteins, activating phospholipase C and intracellular calcium release. mGluR1 is essential for cerebellar function and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRM1 Knockout HEK293 Cell Line | EDJ-KQ1527 | Human | 2911 | Details Get a Quote |
| GRM1 Knockout HeLa Cell Line | EDJ-KQ53435 | Human | 2911 | Details Get a Quote |
| GRM1 Knockout A-549 Cell Line | EDJ-KQ61909 | Human | 2911 | Details Get a Quote |
| GRM1 Knockout HCT 116 Cell Line | EDJ-KQ70389 | Human | 2911 | Details Get a Quote |
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