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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRM1
glutamate metabotropic receptor 1
Chromosome 6 Β· 6q24.3
NCBI Gene: 2911Ensembl: ENSG00000152822.15HGNC: HGNC:4593UniProt: Q13255
147PubMed Papers
22Diseases
0Drugs
14Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
G protein-coupled receptor homodimeric complexsynaptic signaling via neuropeptideprotein bindingglutamate receptor activityautosomal recessive spinocerebellar ataxia 13Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyspinocerebellar ataxia 44Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
✦AI Summary

GRM1 (glutamate metabotropic receptor 1) is a G-protein coupled receptor that binds glutamate and activates phosphatidylinositol-calcium second messenger systems through GNAQ-PLC-PKC signaling pathways 123. The receptor plays crucial roles in synaptic plasticity, including long-term potentiation in the hippocampus and long-term depression in the cerebellum, and modulates ion channel activity in dopaminergic neurons and cerebellar Purkinje cells 45. Beyond its neurological functions, GRM1 has significant oncogenic potential when aberrantly expressed. Gene fusions and rearrangements involving GRM1 serve as key drivers in chondromyxoid fibroma, with up to 1,400-fold overexpression detected in 90% of cases 6. GRM1 fusions also represent alternative molecular drivers in blue nevi and related melanomas, appearing mutually exclusive with classical GNAQ/GNA11 mutations 7. In human melanoma, genetic variants in GRM1 may contribute to disease susceptibility, particularly in patients with low sun exposure and tumors on trunk/extremities 8. The receptor's role in tumorigenesis makes it a potential therapeutic target, with studies demonstrating tumor suppression through GRM1-targeting approaches 9. Additionally, GRM1 has been associated with ADHD pathogenesis, suggesting broader neurodevelopmental roles 10.

Sources cited
1
GRM1 participates in central glutamate actions including long-term potentiation
PMID: 24603153
2
GRM1 participates in central glutamate actions including long-term potentiation
PMID: 28886343
3
GRM1 participates in central glutamate actions including long-term potentiation
PMID: 7476890
4
GRM1 induces ion channel activation via GNAQ-PLC-PKC pathway in dopaminergic neurons
PMID: 24357660
5
GRM1 induces ion channel activation via GNAQ-PLC-PKC pathway in cerebellar Purkinje cells
PMID: 27276689
6
GRM1 shows up to 1,400-fold overexpression in 90% of chondromyxoid fibromas through gene fusions
PMID: 24658000
7
GRM1 gene fusions serve as alternative molecular drivers in blue nevi and melanomas
PMID: 37391170
8
GRM1 genetic variants may contribute to melanoma susceptibility in specific patient subgroups
PMID: 17609672
9
GRM1-targeting approaches demonstrate tumor suppression in melanoma models
PMID: 23673539
10
GRM1 is associated with ADHD pathogenesis
PMID: 36211978
Disease Associationsβ“˜22
autosomal recessive spinocerebellar ataxia 13Open Targets
0.76Strong
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyOpen Targets
0.71Strong
spinocerebellar ataxia 44Open Targets
0.70Moderate
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndromeOpen Targets
0.69Moderate
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.56Moderate
autosomal dominant cerebellar ataxiaOpen Targets
0.56Moderate
cerebellar ataxiaOpen Targets
0.37Weak
fragile X syndromeOpen Targets
0.35Weak
Global developmental delayOpen Targets
0.34Weak
mucositisOpen Targets
0.30Weak
schizophreniaOpen Targets
0.29Weak
stomatitisOpen Targets
0.29Weak
esophageal diseaseOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.26Weak
facial painOpen Targets
0.26Weak
skin neoplasmOpen Targets
0.24Weak
ovarian dysfunctionOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
Spinocerebellar ataxia 44UniProt
Spinocerebellar ataxia, autosomal recessive, 13UniProt
Pathogenic Variants14
NM_001278064.2(GRM1):c.26dup (p.Ala11fs)Pathogenic
Autosomal recessive spinocerebellar ataxia 13|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 11
NM_001278064.2(GRM1):c.2238C>A (p.Cys746Ter)Pathogenic
Autosomal recessive spinocerebellar ataxia 13
β˜…β˜†β˜†β˜†2025β†’ Residue 746
NM_001278064.2(GRM1):c.1679del (p.Phe560fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 560
NM_001278064.2(GRM1):c.1145del (p.Gly382fs)Likely pathogenic
Autosomal recessive spinocerebellar ataxia 13
β˜…β˜†β˜†β˜†2024β†’ Residue 382
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)Likely pathogenic
Spinocerebellar ataxia 44|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 792
NM_001278064.2(GRM1):c.2527_2548del (p.Glu843fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 843
NM_001278064.2(GRM1):c.3030del (p.Lys1011fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1011
NM_001278064.2(GRM1):c.1974C>A (p.Tyr658Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 658
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)Pathogenic
Autosomal recessive spinocerebellar ataxia 13|Global developmental delay
β˜…β˜†β˜†β˜†2019β†’ Residue 297
NM_001278064.2(GRM1):c.1715del (p.Asn572fs)Pathogenic
Autosomal recessive spinocerebellar ataxia 13
β˜…β˜†β˜†β˜†β†’ Residue 572
NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe)Pathogenic
Autosomal recessive spinocerebellar ataxia 13
β˜†β˜†β˜†β˜†2020β†’ Residue 454
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)Pathogenic
Spinocerebellar ataxia 44
β˜†β˜†β˜†β˜†2020β†’ Residue 1056
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)Pathogenic
Spinocerebellar ataxia 44
β˜†β˜†β˜†β˜†2020β†’ Residue 262
NM_001278064.2(GRM1):c.2471C>G (p.Thr824Arg)Pathogenic
Cerebellar ataxia
β˜†β˜†β˜†β˜†β†’ Residue 824
View on ClinVar β†—
Related Genes
CALCRLProtein interaction100%GNAI1Protein interaction99%GNA13Protein interaction99%RAMP2Protein interaction99%HOMER3Protein interaction99%HOMER2Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Brain
35%
Ovary
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
GRM1CALCRLGNAI1GNA13RAMP2HOMER3HOMER2
PROTEIN STRUCTURE
Preparing viewer…
PDB3KS9 Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.30 [0.22–0.42]
RankingsWhere GRM1 stands among ~20K protein-coding genes
  • #3,086of 20,598
    Most Researched147 Β· top quartile
  • #2,504of 5,498
    Most Pathogenic Variants14
  • #2,185of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedGRM1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Detection of GRM1 gene rearrangements in chondromyxoidΒ fibroma: a comparison of fluorescence in-situ hybridisation,Β RNA sequencing and immunohistochemical analysis.
PMID: 38890779
Histopathology Β· 2024
1.00
2
Malignant blue melanoma.
PMID: 39260463
Clin Dermatol Β· 2025
0.90
3
Attention-deficit/hyperactive disorder updates.
PMID: 36211978
Front Mol Neurosci Β· 2022
0.80
4
GRM1 Gene Fusions as an Alternative Molecular Driver in Blue Nevi and Related Melanomas.
PMID: 37391170
Mod Pathol Β· 2023
0.70
5
GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.
PMID: 24658000
Nat Genet Β· 2014
0.60