Gene
GRM1
glutamate metabotropic receptor 1
- HGNC 4593↗(opens in a new tab)
- Ensembl gene ENSG00000152822↗(opens in a new tab)
- NCBI Gene 2911↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q24.3
- Coordinates
- Chromosome 6: 146,029,062–146,437,601 (GRCh38)
- Exons
- 8 exons across 408.5 kb
- Protein
- 1,194 amino acids
- Also known as
- GPRC1A, mGlu1, MGLUR1, PPP1R85
- MANE Select transcript
- ENST00000282753.6NM_001278064.2
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)
- Autosomal Dominant Cerebellar AtaxiaAutosomal dominant
A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.
- 2 GenCC submitters rate it definitive or strong
▶Actionability
Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- 3 GenCC submitters rate it definitive or strong
▶Actionability
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
How GRM1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.8 kb of the gene's 408.5 kb; 3,585 of those bases code for the protein.
Sequencing GRM1
2Low
How hard GRM1 is to sequence with short reads, out of 100Each bar is the share of GRM1's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.4.3%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.14%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
5
positions in GRM1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 408.5 kb of GRM1, introns included, not only the 6.8 kb of exons.
Genes linked to the same conditions
- SPTBN2spectrin beta, non-erythrocytic 2Shares 2 conditions
- STUB1STIP1 homology and U-box containing protein 1Shares 2 conditions
- AFG3L2AFG3 like matrix AAA peptidase subunit 2Shares 1 condition
- AHI1Abelson helper integration site 1Shares 1 condition
- ANO10anoctamin 10Shares 1 condition
- ATCAYATCAY kinesin light chain interacting caytaxinShares 1 condition
- ATG7autophagy related 7Shares 1 condition
- ATN1atrophin 1Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
- ATP8A2ATPase phospholipid transporting 8A2Shares 1 condition
- ATXN1ataxin 1Shares 1 condition
- ATXN10ataxin 10Shares 1 condition
Traits linked to GRM1
The Human Phenotype Ontology lists these as features of the rare conditions GRM1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Ataxia
- Degeneration of cerebellum
- Delayed speech and language development
- Difficulty articulating speech
- Difficulty performing quick and alternating movements
- Global developmental delay
- Inability to coordinate movements when walking
Show 16 more traits
- Inability to walk
- Intellectual disability
- Lack of coordination of movement
- Severe global developmental delay
- Tremor
- Increased reflexes
- Abnormal speech pattern
- Dilated fourth ventricle
- Inferior cerebellar vermis hypoplasia
- Retrocerebellar cyst
- Uncoordinated limb movement
- Brisk reflexes
- Epilepsy
- Motor delay
- Peripheral nerve disease
- Abnormal pyramidal sign
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-e609d43e.
Cite this page
Dante Labs. (n.d.). GRM1 gene: glutamate metabotropic receptor 1. Retrieved 18 October 2026, from https://dantelabs.com/genes/grm1
Dante Labs. GRM1 gene: glutamate metabotropic receptor 1 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/grm1
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