Human Gene GRM1 (ENST00000507907.1) Description and Page Index
  Description: Receptor for glutamate. The activity of this receptor is mediated by a G-protein that 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. (from UniProt Q13255)
RefSeq Summary (NM_001278066): 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].
Gencode Transcript: ENST00000507907.1
Gencode Gene: ENSG00000152822.14
Transcript (Including UTRs)
   Position: hg38 chr6:146,029,486-146,434,885 Size: 405,400 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr6:146,029,518-146,426,619 Size: 397,102 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:146,029,486-146,434,885)mRNA (may differ from genome)Protein (906 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIneXtProtPubMedReactomeStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: GRM1_HUMAN
DESCRIPTION: RecName: Full=Metabotropic glutamate receptor 1; Short=mGluR1; Flags: Precursor;
FUNCTION: Receptor for glutamate. The activity of this receptor is mediated by a G-protein that 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.
SUBUNIT: Homodimer; disulfide-linked. The PPXXF motif binds HOMER1, HOMER2 and HOMER3. Interacts with SIAH1, RYR1, RYR2, ITPR1, SHANK1, SHANK3 and GRASP (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the G-protein coupled receptor 3 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: GRM1
Diseases sorted by gene-association score: spinocerebellar ataxia, autosomal recessive 13* (1369), chondromyxoid fibroma* (368), spinocerebellar ataxia type 19/22 (11), spinocerebellar ataxia 27 (9), hypocalcemia, autosomal dominant (8), disuse amblyopia (7), asymptomatic neurosyphilis (7), fragile x syndrome (6), spinocerebellar ataxia 28 (5), central nervous system disease (5), leukomalacia (4), tertiary neurosyphilis (4), schizophrenia (3), cerebellar ataxia (2), parkinson disease, late-onset (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C117789 7-(hydroxyimino)cyclopropan(b)chromen-1a-carbxoylic acid ethyl ester
  • C505455 6-amino-N-cyclohexyl-N,3-dimethylthiazolo(3,2-a)benzimidazole-2-carboxamide
  • C502015 (3-ethyl-2-methyl-quinolin-6-yl)-(4-methoxycyclohexyl)methanone methanesulfonate
  • C523946 (R)-N-cycloheptyl-6-((((tetrahydro-2-furyl)methyl)amino)methyl)thieno(2,3-d)pyrimidin-4-ylamine
  • C063159 1-(2-(3-(4-methoxyphenyl)propoxy)-4-methoxyphenylethyl)-1H-imidazole
  • D020001 1-Butanol
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • C095756 1-aminoindan-1,5-dicarboxylic acid
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C109986 2-aminoethoxydiphenyl borate
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.83 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 44.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.9032-0.247 Picture PostScript Text
3' UTR -406.001003-0.405 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001828 - ANF_lig-bd_rcpt
IPR000337 - GPCR_3
IPR011500 - GPCR_3_9-Cys_dom
IPR017978 - GPCR_3_C
IPR017979 - GPCR_3_CS
IPR000162 - GPCR_3_mtglu_rcpt
IPR001256 - GPCR_3_mtglu_rcpt_1
IPR019588 - Metabotropic_Glu_rcpt_Homer-bd

Pfam Domains:
PF00003 - 7 transmembrane sweet-taste receptor of 3 GCPR
PF01094 - Receptor family ligand binding region
PF10606 - Homer-binding domain of metabotropic glutamate receptor
PF07562 - Nine Cysteines Domain of family 3 GPCR

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3KS9
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13255
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0008066 glutamate receptor activity
GO:0042802 identical protein binding
GO:0099583 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration

Biological Process:
GO:0000186 activation of MAPKK activity
GO:0000187 activation of MAPK activity
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007196 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway
GO:0007216 G-protein coupled glutamate receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007626 locomotory behavior
GO:0019233 sensory perception of pain
GO:0038042 dimeric G-protein coupled receptor signaling pathway
GO:0043408 regulation of MAPK cascade
GO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway
GO:0051930 regulation of sensory perception of pain
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0071257 cellular response to electrical stimulus
GO:0099566 regulation of postsynaptic cytosolic calcium ion concentration

Cellular Component:
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0038037 G-protein coupled receptor dimeric complex
GO:0038038 G-protein coupled receptor homodimeric complex
GO:0042734 presynaptic membrane
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  AK308550 - Homo sapiens cDNA, FLJ98591.
L76631 - Homo sapiens metabotropic glutamate receptor 1 beta (mGluR1beta) mRNA, complete cds.
U31215 - Human metabotropic glutamate receptor 1 alpha (mGluR1alpha) mRNA, complete cds.
BC136280 - Homo sapiens glutamate receptor, metabotropic 1, mRNA (cDNA clone MGC:167890 IMAGE:9020267), complete cds.
BC143777 - Homo sapiens cDNA clone IMAGE:9052291.
BC143779 - Homo sapiens cDNA clone IMAGE:9052293.
BC111844 - Synthetic construct Homo sapiens clone IMAGE:40080840, MGC:133394 GRM1 protein (GRM1) mRNA, encodes complete protein.
AB527156 - Synthetic construct DNA, clone: pF1KB7292, Homo sapiens GRM1 gene for glutamate receptor, metabotropic 1, without stop codon, in Flexi system.
U31216 - Human metabotropic glutamate receptor 1 beta (mGluR1beta) mRNA, complete cds.
L76627 - Homo sapiens metabotropic glutamate receptor 1 alpha (mGluR1alpha) mRNA, complete cds.
AB208837 - Homo sapiens mRNA for glutamate receptor, metabotropic 1 variant protein.
JD413041 - Sequence 394065 from Patent EP1572962.
JD219532 - Sequence 200556 from Patent EP1572962.
JD067220 - Sequence 48244 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04080 - Neuroactive ligand-receptor interaction
hsa04540 - Gap junction
hsa04720 - Long-term potentiation
hsa04730 - Long-term depression

BioCarta from NCI Cancer Genome Anatomy Project
h_ck1Pathway - Regulation of ck1/cdk5 by type 1 glutamate receptors

Reactome (by CSHL, EBI, and GO)

Protein Q13255 (Reactome details) participates in the following event(s):

R-HSA-6794355 Homer1,2,3 binds mGluR1a,5
R-HSA-373075 Metabotropic glutamate receptors bind glutamate
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-6794344 HOMER binds SHANK proteins
R-HSA-6794347 Homer1,2,3 dimerizes
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-6794361 Neurexins and neuroligins
R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors)
R-HSA-416476 G alpha (q) signalling events
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-500792 GPCR ligand binding
R-HSA-388396 GPCR downstream signalling
R-HSA-112316 Neuronal System
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B9EG79, BC143777, GPRC1A, GRM1_HUMAN, MGLUR1, Q13255, Q13256, Q14757, Q14758, Q5VTF7, Q5VTF8, Q9NU10, Q9UGS9, Q9UGT0, uc011edz.1, uc011edz.2, uc011edz.3
UCSC ID: uc011edz.3
RefSeq Accession: NM_001278066
Protein: Q13255 (aka GRM1_HUMAN)
CCDS: CCDS47497.1, CCDS64548.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GRM1:
ataxias (Hereditary Ataxia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.