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Aliases for GRM1 Gene

Aliases for GRM1 Gene

  • Glutamate Metabotropic Receptor 1 2 3
  • Glutamate Receptor, Metabotropic 1 2 3 5
  • GPRC1A 3 4
  • MGLUR1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 85 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 85 2
  • PPP1R85 3
  • SCAR13 3
  • MGLU1 3

External Ids for GRM1 Gene

Previous GeneCards Identifiers for GRM1 Gene

  • GC06P146196
  • GC06P146330
  • GC06P146390
  • GC06P143912

Summaries for GRM1 Gene

Entrez Gene Summary for GRM1 Gene

  • This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

GeneCards Summary for GRM1 Gene

GRM1 (Glutamate Metabotropic Receptor 1) is a Protein Coding gene. Diseases associated with GRM1 include Spinocerebellar Ataxia, Autosomal Recessive 13 and Chondromyxoid Fibroma. Among its related pathways are Taste transduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. GO annotations related to this gene include G-protein coupled receptor activity and glutamate receptor activity. An important paralog of this gene is TAS1R2.

UniProtKB/Swiss-Prot for GRM1 Gene

  • G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum.

Tocris Summary for GRM1 Gene

  • Metabotropic glutamate (mGlu) group I receptors are members of the metabotropic class of glutamate receptors, which also includes mGlu group II and mGlu group III receptors. mGlu group I receptors are divided into two subtypes, mGlu1 and mGlu5.

Gene Wiki entry for GRM1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRM1 Gene

Genomics for GRM1 Gene

Regulatory Elements for GRM1 Gene

Enhancers for GRM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GRM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRM1 Gene

Chromosome:
6
Start:
145,964,769 bp from pter
End:
146,437,598 bp from pter
Size:
472,830 bases
Orientation:
Plus strand

Genomic View for GRM1 Gene

Genes around GRM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRM1 Gene

Proteins for GRM1 Gene

  • Protein details for GRM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13255-GRM1_HUMAN
    Recommended name:
    Metabotropic glutamate receptor 1
    Protein Accession:
    Q13255
    Secondary Accessions:
    • B9EG79
    • F8W805
    • Q13256
    • Q14757
    • Q14758
    • Q5VTF7
    • Q5VTF8
    • Q9NU10
    • Q9UGS9
    • Q9UGT0

    Protein attributes for GRM1 Gene

    Size:
    1194 amino acids
    Molecular mass:
    132357 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. The PPXXF motif binds HOMER1, HOMER2 and HOMER3. Interacts with SIAH1, RYR1, RYR2, ITPR1, SHANK1, SHANK3 and GRASP (By similarity).

    Three dimensional structures from OCA and Proteopedia for GRM1 Gene

    Alternative splice isoforms for GRM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRM1 Gene

Proteomics data for GRM1 Gene at MOPED

Post-translational modifications for GRM1 Gene

  • Glycosylation at Asn 98, Asn 223, Asn 397, and Asn 515
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GRM1 (mGluR1)

No data available for DME Specific Peptides for GRM1 Gene

Domains & Families for GRM1 Gene

Suggested Antigen Peptide Sequences for GRM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13255

UniProtKB/Swiss-Prot:

GRM1_HUMAN :
  • Belongs to the G-protein coupled receptor 3 family.
Family:
  • Belongs to the G-protein coupled receptor 3 family.
genes like me logo Genes that share domains with GRM1: view

Function for GRM1 Gene

Molecular function for GRM1 Gene

GENATLAS Biochemistry:
metabotropic glutamate receptor 1,expressed in the brain,G protein coupled receptor superfamily,binding to HOMER proteins and linked to inositol phosphate receptors,activating PI turnover and triggering intracellular calcium release,
UniProtKB/Swiss-Prot EnzymeRegulation:
Signaling is inhibited by the antagonist LY341495. The LY341495 binding site partially overlaps with the glutamate binding site. Signaling is also inhibited by synthetic allosteric regulators, such as FITM (4-fluoro-N-(4-(6-(isopropylamino)pyrimidin-4-yl)thiazol-2-yl)-N-methylbenzamide) that bind in a pocket between the transmembrane helices.
UniProtKB/Swiss-Prot Function:
G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum.
genes like me logo Genes that share phenotypes with GRM1: view

Human Phenotype Ontology for GRM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRM1 Gene

MGI Knock Outs for GRM1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GRM1 Gene

Localization for GRM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRM1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRM1 Gene COMPARTMENTS Subcellular localization image for GRM1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IMP --
GO:0014069 postsynaptic density IEA,IBA --
GO:0030425 dendrite IEA --
GO:0038037 G-protein coupled receptor dimeric complex IDA 24603153
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with GRM1: view

Pathways & Interactions for GRM1 Gene

genes like me logo Genes that share pathways with GRM1: view

Gene Ontology (GO) - Biological Process for GRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity IEA --
GO:0000187 activation of MAPK activity IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,IDA 24603153
GO:0019233 sensory perception of pain IEA --
GO:0051966 regulation of synaptic transmission, glutamatergic IBA --
genes like me logo Genes that share ontologies with GRM1: view

No data available for SIGNOR curated interactions for GRM1 Gene

Drugs & Compounds for GRM1 Gene

(65) Drugs for GRM1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acamprosate Approved, Investigational Pharma 38
4-(1-Amino-1-Carboxy-Ethyl)-Benzoic Acid Experimental Pharma Target 0
CPCCOEt Pharma Negative, Allosteric regulator 0
LY367385 Pharma Antagonist 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

(18) Additional Compounds for GRM1 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
9-dimethylamino-3-(4-ethylphenyl)-3H-5-thia-1,3,6-triazafluoren-4-one
Negative, Allosteric regulator
A841720
Negative, Allosteric regulator
(+-)-trans-ACPD
67684-64-4
(1S,3R)-ACPD
111900-32-4
(RS)-3-Hydroxyphenylglycine
31932-87-3

(5) Tocris Compounds for GRM1 Gene

Compound Action Cas Number
(+-)-trans-ACPD Group I/group II mGlu agonist 67684-64-4
(1S,3R)-ACPD Group I/group II mGlu agonist 111900-32-4
(RS)-3-Hydroxyphenylglycine Group I mGlu agonist 31932-87-3
L-Quisqualic acid AMPA/group I mGlu agonist 52809-07-1
S-Sulfo-L-cysteine sodium salt Group I agonist 7381-67-1
genes like me logo Genes that share compounds with GRM1: view

Transcripts for GRM1 Gene

Unigene Clusters for GRM1 Gene

Glutamate receptor, metabotropic 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GRM1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: -

Relevant External Links for GRM1 Gene

GeneLoc Exon Structure for
GRM1
ECgene alternative splicing isoforms for
GRM1

Expression for GRM1 Gene

mRNA expression in normal human tissues for GRM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRM1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x13.3), Brain - Cerebellum (x11.0), Brain - Anterior cingulate cortex (BA24) (x4.5), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for GRM1 Gene

This gene is overexpressed in Nasal epithelium (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRM1 Gene



SOURCE GeneReport for Unigene cluster for GRM1 Gene Hs.32945

mRNA Expression by UniProt/SwissProt for GRM1 Gene

Q13255-GRM1_HUMAN
Tissue specificity: Detected in brain.
genes like me logo Genes that share expression patterns with GRM1: view

Primer Products

No data available for Protein tissue co-expression partners for GRM1 Gene

Orthologs for GRM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GRM1 35
  • 90.49 (n)
  • 94.11 (a)
GRM1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRM1 35
  • 92.28 (n)
  • 95.71 (a)
GRM1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grm1 35
  • 87.77 (n)
  • 94.29 (a)
Grm1 16
Grm1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRM1 35
  • 99.66 (n)
  • 99.83 (a)
GRM1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grm1 35
  • 88.41 (n)
  • 94.21 (a)
oppossum
(Monodelphis domestica)
Mammalia GRM1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRM1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRM1 35
  • 79.11 (n)
  • 87.41 (a)
GRM1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRM1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grm1 35
  • 72.1 (n)
  • 81.02 (a)
zebrafish
(Danio rerio)
Actinopterygii grm1 35
  • 70.56 (n)
  • 74.83 (a)
GRM1 (2 of 2) 36
  • 73 (a)
OneToMany
grm1a 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30361 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea mgl-2 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
ManyToMany
Species with no ortholog for GRM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRM1 Gene

ENSEMBL:
Gene Tree for GRM1 (if available)
TreeFam:
Gene Tree for GRM1 (if available)

Paralogs for GRM1 Gene

Paralogs for GRM1 Gene

(10) SIMAP similar genes for GRM1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GRM1: view

Variants for GRM1 Gene

Sequence variations from dbSNP and Humsavar for GRM1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2941 - 146,433,996(+) CAGCC(A/G/T)TCATC reference, missense, utr-variant-3-prime
rs12190109 - 146,029,618(+) GTCGT(A/C)TCAGC reference, missense
rs7760248 - 146,159,501(+) GGCTA(A/G)AGTGG reference, missense
rs3025919 - 146,399,262(+) AAGGA(A/T)GTCTA reference, missense
rs362936 - 146,399,690(+) GGCAG(A/G)GAATG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GRM1 Gene

Variant ID Type Subtype PubMed ID
nsv830836 CNV Gain 17160897
nsv527571 CNV Loss 19592680
nsv482962 CNV Loss 15286789
esv32685 CNV Loss 17666407
nsv886749 CNV Gain 21882294
esv2669145 CNV Deletion 23128226
esv2660189 CNV Deletion 23128226
esv28078 CNV Loss 19812545

Variation tolerance for GRM1 Gene

Residual Variation Intolerance Score: 3.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.06; 60.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRM1 Gene

Human Gene Mutation Database (HGMD)
GRM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRM1 Gene

Disorders for GRM1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for GRM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 13
  • autosomal recessive spinocerebellar ataxia 13
chondromyxoid fibroma
autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency
  • spinocerebellar ataxia, autosomal recessive 13
hypocalcemia, autosomal dominant
  • hypocalcemia, autosomal dominant, with bartter syndrome
spinocerebellar ataxia 27
  • spinocerebellar ataxia type 27
- elite association - COSMIC cancer census association via MalaCards
Search GRM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRM1_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 13 (SCAR13) [MIM:614831]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia. {ECO:0000269 PubMed:22901947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRM1

Genetic Association Database (GAD)
GRM1
Human Genome Epidemiology (HuGE) Navigator
GRM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRM1
genes like me logo Genes that share disorders with GRM1: view

No data available for Genatlas for GRM1 Gene

Publications for GRM1 Gene

  1. Human metabotropic glutamate receptor 1: mRNA distribution, chromosome localization and functional expression of two splice variants. (PMID: 9076744) Stephan D. … Pruss R.M. (Neuropharmacology 1996) 2 3 4 23 67
  2. Pharmacological characterization of a new, orally active and potent allosteric metabotropic glutamate receptor 1 antagonist, 4-[1-(2-fluoropyridin-3-yl)-5-methyl-1H-1,2,3-triazol-4-yl]-N-isopropyl-N-methyl-3,6-dihydropyridine-1(2H)-carboxamide (FTIDC). (PMID: 17360958) Suzuki G. … Ohta H. (J. Pharmacol. Exp. Ther. 2007) 23 25 26
  3. Expression of a novel splice variant of human mGluR1 in the cerebellum. (PMID: 9376535) Makoff A.J. … Emson P. (Neuroreport 1997) 2 3 23
  4. AKT2 is a downstream target of metabotropic glutamate receptor 1 (Grm1). (PMID: 19843246) Shin S.S. … Chen S. (Pigment Cell Melanoma Res 2010) 3 23
  5. The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia. (PMID: 19924463) Rossi P.I. … Puliti A. (J. Neurol. 2010) 3 23

Products for GRM1 Gene

Sources for GRM1 Gene

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