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Aliases for GRM1 Gene

Aliases for GRM1 Gene

  • Glutamate Metabotropic Receptor 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 85 2 3
  • Glutamate Receptor, Metabotropic 1 2 3
  • GPRC1A 3 4
  • MGLUR1 3 4
  • Metabotropic Glutamate Receptor 1 3
  • 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 Signaling in Gap Junctions and RET signaling. GO annotations related to this gene include G-protein coupled receptor activity and glutamate receptor activity. An important paralog of this gene is GRM5.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G146357 1 Ensembl ENCODE 4.8 +393.7 393673 2.7 TAL1 JUN BACH1 ZNF175 CEBPG FOSL1 IRF9 ZNF316 GATA2 NFE2 LOC105378042 GRM1 GC06P146359 RNA5SP222
GH06G146103 0.4 ENCODE 10.3 +138.9 138891 0.2 FOXP2 GRM1 FUNDC2P3
GH06G146028 0.9 ENCODE 0.2 +63.6 63621 0.1 MLX ZFP64 ARID4B SLC30A9 ZNF766 ZNF143 MXD4 MIER2 REST PPARG GRM1 FUNDC2P3
GH06G146080 0.4 FANTOM5 0.1 +116.1 116140 0.3 MNT MYC FUNDC2P3 GRM1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRM1 on UCSC Golden Path with GeneCards custom track

Promoters for GRM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000204606 -769 2401 PKNOX1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

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

Post-translational modifications for GRM1 Gene

  • Glycosylation at posLast=9898, isoforms=3, 2223, posLast=397397, and isoforms=3, 2515
  • 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.

Gene Ontology (GO) - Molecular Function for GRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity TAS 7476890
GO:0005515 protein binding IPI 19084525
GO:0008066 glutamate receptor activity TAS 7476890
GO:0099583 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration IEA --
genes like me logo Genes that share ontologies with GRM1: view
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRM1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRM1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP,TAS 24603153
GO:0014069 postsynaptic density IEA,IBA --
GO:0016020 membrane 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:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IDA,TAS 24603153
GO:0007196 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Spaglumic acid Approved Pharma 0
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist 0
Acamprosate Approved, Investigational Pharma 39
4-(1-Amino-1-Carboxy-Ethyl)-Benzoic Acid Experimental Pharma Target 0
CPCCOEt Pharma Negative, Allosteric regulator 0

(12) Additional Compounds for GRM1 Gene - From: IUPHAR and Novoseek

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

(5) Tocris Compounds for GRM1 Gene

Compound Action Cas Number
(RS)-3,5-DHPG Selective group I mGlu agonist 19641-83-9
(S)-3,5-DHPG Selective group I mGlu agonist. Active enantiomer of 3,5-DHPG (Cat. No. 0342) 162870-29-3
LY 367385 Selective mGlu1a antagonist 198419-91-9
MPEP hydrochloride mGlu5 antagonist and positive allosteric modulator at mGlu4 219911-35-0
MTEP hydrochloride Potent, selective mGlu5 antagonist 1186195-60-7

(107) ApexBio Compounds for GRM1 Gene

Compound Action Cas Number
(±)-LY 395756 852679-66-4
(±)-trans-ACPD 67684-64-4
(1S,3R)-ACPD 111900-32-4
(R)-3,4-DCPG 201730-10-1
(R)-3-Carboxy-4-hydroxyphenylglycine 13861-03-5
(RS)-3,4-DCPG 176796-64-8
(RS)-3,5-DHPG 19641-83-9
(RS)-3-Hydroxyphenylglycine 31932-87-3
(RS)-4-Carboxy-3-hydroxyphenylglycine 134052-66-7
(RS)-4-Carboxyphenylglycine 7292-81-1
(RS)-APICA 170847-18-4
(RS)-MCPG 146669-29-6
(RS)-MCPG disodium salt 1303994-09-3
(RS)-PPG 120667-15-4
(S)-3,4-DCPG 201730-11-2
(S)-3,5-DHPG 162870-29-3
(S)-3-Carboxy-4-hydroxyphenylglycine 55136-48-6
(S)-3-Hydroxyphenylglycine 71301-82-1
(S)-4-Carboxy-3-hydroxyphenylglycine 85148-82-9
(S)-4-Carboxyphenylglycine 134052-73-6
(S)-HexylHIBO 334887-48-8
(S)-MCPG 150145-89-4
2,4-Dihydroxyphenylacetyl-L-asparagine 111872-98-1
3-MATIDA 518357-51-2
A 841720 MGlu1 antagonist,potent and non-competitive 869802-58-4
ACDPP hydrochloride 37804-11-8
ACPT-I 194918-76-8
ACPT-II 195209-04-2
AIDA 168560-79-0
Bay 36-7620 MGlu1 receptor,selective and non-competitive 232605-26-4
BINA 866823-73-6
CBiPES hydrochloride 856702-40-4
CDPPB 781652-57-1
CHPG Sodium salt 1303993-73-8
Cinnabarinic acid 606-59-7
CPCCOEt 179067-99-3
CPPG 183364-82-1
D-AP4 78739-01-2
DCB 6971-97-7
DCG IV 147782-19-2
Desmethyl-YM 298198 1177767-57-5
DFB 15332-10-2
DL-AP4 20263-07-4
DL-AP4 Sodium salt 1263093-79-3
DMeOB 40252-74-2
E4CPG 170846-89-6
EGLU 170984-72-2
Fenobam 57653-26-6
HexylHIBO 334887-43-3
JNJ 16259685 409345-29-5
Kynurenic acid 492-27-3
Kynurenic acid sodium salt 2439-02-3
L-AP4 23052-81-5
L-AP6 78944-89-5
L-BMAA hydrochloride 16012-55-8
L-CCG-l 117857-93-9
L-Glutamine 56-85-9
LY 2389575 hydrochloride 885104-09-6
LY 354740 176199-48-7
LY 367385 mGlu1a receptor antagonist 198419-91-9
LY 379268 disodium salt
LY 456236 hydrochloride 338736-46-2
LY 487379 hydrochloride 353229-59-1
LY341495 Metabotropic glutamate receptor antagonist 201943-63-7
MAP4 157381-42-5
MFZ 10-7 1224431-15-5
ML 289 1382481-79-9
ML 337 1443118-44-2
MMPIP hydrochloride 479077-02-6
MNI 137 946619-21-2
MNI-caged-L-glutamate 295325-62-1
MSOP 66515-29-5
MSPG 169209-64-7
MTPG 169209-66-9
N-Acetylglycyl-D-glutamic acid 135701-69-8
NPEC-caged-(1S,3R)-ACPD 1315379-60-2
NPEC-caged-(S)-3,4-DCPG 1257323-85-5
NPEC-caged-LY 379268
NPS 2390 226878-01-9
O-Phospho-L-serine 407-41-0
PHCCC 179068-02-1
Ro 01-6128 302841-86-7
Ro 64-5229 246852-46-0
Ro 67-4853 302841-89-0
Ro 67-7476 298690-60-5
RuBi-Glutamate
Salsolinol-1-carboxylic acid 57256-34-5
SIB 1757 31993-01-8
SIB 1893 6266-99-5
Spaglumic acid 3106-85-2
S-Sulfo-L-cysteine sodium salt 7381-67-1
TC-N 22A 1314140-00-5
TCN 238 125404-04-8
UBP1112 339526-74-8
VU 0155041 1093757-42-6
VU 0155041 sodium salt 1259372-69-4
VU 0285683 327056-22-4
VU 0360172 hydrochloride 1309976-62-2
VU 0360223 1274859-33-4
VU 1545 890764-63-3
VU 29 890764-36-0
Xanthurenic acid 59-00-7
YM 202074 299900-84-8
YM 230888 446257-23-4
YM 298198 hydrochloride 1216398-09-2
Z-Cyclopentyl-AP4 103439-17-4
γDGG 6729-55-1
genes like me logo Genes that share compounds with GRM1: view

Drug Products

Transcripts for GRM1 Gene

Unigene Clusters for GRM1 Gene

Glutamate receptor, metabotropic 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRM1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of GRM1 Gene:

GRM1

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.

Evidence on tissue expression from TISSUES for GRM1 Gene

  • Nervous system(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRM1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nervous system
  • skin
  • spinal cord
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
chimpanzee
(Pan troglodytes)
Mammalia GRM1 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia GRM1 34 35
  • 92.28 (n)
cow
(Bos Taurus)
Mammalia GRM1 34 35
  • 90.49 (n)
oppossum
(Monodelphis domestica)
Mammalia GRM1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grm1 34
  • 88.41 (n)
mouse
(Mus musculus)
Mammalia Grm1 34 16 35
  • 87.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRM1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRM1 34 35
  • 79.11 (n)
lizard
(Anolis carolinensis)
Reptilia GRM1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grm1 34
  • 72.1 (n)
zebrafish
(Danio rerio)
Actinopterygii GRM1 (2 of 2) 35
  • 73 (a)
OneToMany
grm1 34
  • 70.56 (n)
grm1a 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30361 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea mgl-2 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
ManyToMany
Species where no ortholog for GRM1 was found in the sources mined by GeneCards:
  • 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
VAR_036194 A colorectal cancer sample
rs1047006 Likely benign 146,434,424(+) CCACC(C/G/T)CCGCA reference, synonymous-codon, utr-variant-3-prime
rs2942 Likely benign 146,434,004(+) ATCAA(A/G)CCCCT reference, synonymous-codon, utr-variant-3-prime
rs6923492 Likely benign 146,434,188(+) TGCCG(C/T)CCCAC reference, missense, utr-variant-3-prime
rs6923864 Likely benign 146,434,379(+) CCCGG(G/T)GGTCC reference, synonymous-codon, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2660189 CNV deletion 23128226
esv2669145 CNV deletion 23128226
esv28078 CNV loss 19812545
esv32685 CNV loss 17666407
esv3611147 CNV loss 21293372
esv3611151 CNV loss 21293372
esv3611152 CNV loss 21293372
nsv473345 CNV novel sequence insertion 20440878
nsv527571 CNV loss 19592680
nsv604839 CNV gain 21841781
nsv830836 CNV gain 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRM1

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

Disorders for GRM1 Gene

MalaCards: The human disease database

(14) 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
  • fibroma chondromyxoid
spinocerebellar ataxia type 19/22
  • spinocerebellar ataxia 19 and 22
spinocerebellar ataxia 27
  • spinocerebellar ataxia type 27
disuse amblyopia
  • deprivation amblyopia
- 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 22 64
  2. Expression of a novel splice variant of human mGluR1 in the cerebellum. (PMID: 9376535) Makoff A.J. … Emson P. (Neuroreport 1997) 2 3 22 64
  3. Structure of a class C GPCR metabotropic glutamate receptor 1 bound to an allosteric modulator. (PMID: 24603153) Wu H. … Stevens R.C. (Science 2014) 3 4 64
  4. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. (PMID: 22901947) Guergueltcheva V. … Kalaydjieva L. (Am. J. Hum. Genet. 2012) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for GRM1 Gene

  • Addgene plasmids for GRM1

Sources for GRM1 Gene

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