Human Gene GRM5 (uc001pcq.3) Description and Page Index
  Description: Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.
RefSeq Summary (NM_001143831): This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014].
Transcript (Including UTRs)
   Position: hg19 chr11:88,237,744-88,781,240 Size: 543,497 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr11:88,241,760-88,781,040 Size: 539,281 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:88,237,744-88,781,240)mRNA (may differ from genome)Protein (1212 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GRM5_HUMAN
DESCRIPTION: RecName: Full=Metabotropic glutamate receptor 5; Short=mGluR5; 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 and generates a calcium-activated chloride current.
SUBUNIT: The PPXXF motif binds HOMER1, HOMER2 and HOMER3. Interacts with SIAH1, RYR1, RYR2, ITPR1, SHANK1, SHANK3 and GRASP. Interacts with NCDN (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the G-protein coupled receptor 3 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GRM5
CDC HuGE Published Literature: GRM5
Positive Disease Associations: Alcohol dependence , Attention Deficit Disorder with Hyperactivity , Heart Rate , HIV-1 , schizophrenia , smoking cessation , Stroke , Suntan , tanning
Related Studies:
  1. Alcohol dependence
    Bierut ,et al. Proc Natl Acad Sci USA 2010, A genome-wide association study of alcohol dependence , Proceedings of the National Academy of Sciences of the United States of America 2010 107- 11 : 5082-7. [PubMed 20202923]
  2. Attention Deficit Disorder with Hyperactivity
    Anke Hinney et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2011, Genome-wide association study in German patients with attention deficit/hyperactivity disorder., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic. [PubMed 22012869]
  3. Heart Rate
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GRM5
Diseases sorted by gene-association score: fragile x syndrome (20), fragile x-associated tremor/ataxia syndrome (16), synucleinopathy (9), central nervous system disease (8), x-linked hereditary ataxia (7), granulomatous angiitis (7), hypotrichosis 1 (7), amphetamine abuse (5), x-linked disease (5), huntington disease (3), schizophrenia (2), parkinson disease, late-onset (2), focal epilepsy (1), disease of mental health (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C121465 6-methyl-2-(phenylethynyl)pyridine
  • C107349 2-chloro-5-hydroxyphenylglycine
  • C079215 3,5-dihydroxyphenylglycine
  • C472365 3-((2-methyl-1,3-thiazol-4-yl)ethynyl)pyridine
  • C494553 3-cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide
  • D003042 Cocaine
  • D000431 Ethanol
  • D016318 Quisqualic Acid
  • D020001 1-Butanol
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.25 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 55.03 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 -40.91200-0.205 Picture PostScript Text
3' UTR -988.574016-0.246 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
IPR000202 - GPCR_3_mtglu_rcpt_5
IPR019588 - Metabotropic_Glu_rcpt_Homer-bd

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

SCOP Domains:
53822 - Periplasmic binding protein-like I
57586 - TNF receptor-like

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

3LMK
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P41594
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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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:0030296 protein tyrosine kinase activator activity
GO:0099530 G-protein coupled receptor activity involved in regulation of postsynaptic membrane potential
GO:0099583 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration
GO:1990782 protein tyrosine kinase binding

Biological Process:
GO:0001932 regulation of protein phosphorylation
GO:0006417 regulation of translation
GO:0006448 regulation of translational elongation
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:0007206 phospholipase C-activating G-protein coupled glutamate receptor signaling pathway
GO:0007216 G-protein coupled glutamate receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007611 learning or memory
GO:0007612 learning
GO:0007626 locomotory behavior
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0050808 synapse organization
GO:0050890 cognition
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0060078 regulation of postsynaptic membrane potential
GO:0061098 positive regulation of protein tyrosine kinase activity
GO:0090647 modulation of age-related behavioral decline
GO:0099566 regulation of postsynaptic cytosolic calcium ion concentration
GO:1902938 regulation of intracellular calcium activated chloride channel activity
GO:1904646 cellular response to beta-amyloid

Cellular Component:
GO:0005737 cytoplasm
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:0042734 presynaptic membrane
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  D28538 - Homo sapiens mRNA for metabotropic glutamate receptor subtype 5a, complete cds.
D28539 - Homo sapiens mGluR5b mRNA for metabotropic glutamate receptor subtype 5b, complete cds.
AY608336 - Homo sapiens metabotropic glutamate receptor 5 splice variant d (GRM5) mRNA, complete cds.
FJ588505 - Homo sapiens metabotropic glutamate receptor 5 variant F (GRM5) mRNA, complete cds, alternatively spliced.
FJ588506 - Homo sapiens metabotropic glutamate receptor 5 variant G (GRM5) mRNA, complete cds, alternatively spliced.
FJ588507 - Homo sapiens metabotropic glutamate receptor 5 variant H (GRM5) mRNA, complete cds, alternatively spliced.
FJ668670 - Homo sapiens GRM5 variant 9 (GRM5) mRNA, complete cds.
AK291362 - Homo sapiens cDNA FLJ75523 partial cds, highly similar to Homo sapiens glutamate receptor, metabotropic 5 (GRM5), mRNA.
BC031602 - Homo sapiens glutamate receptor, metabotropic 5, mRNA (cDNA clone IMAGE:5167902), with apparent retained intron.
CR627311 - Homo sapiens mRNA; cDNA DKFZp686O06206 (from clone DKFZp686O06206).
U79242 - Human clone 23560 mRNA sequence.
BC047497 - Homo sapiens cDNA clone IMAGE:5277132.
AF052171 - Homo sapiens clone 24816 mRNA sequence.
JD187765 - Sequence 168789 from Patent EP1572962.
JD281204 - Sequence 262228 from Patent EP1572962.
JD260401 - Sequence 241425 from Patent EP1572962.
JD488286 - Sequence 469310 from Patent EP1572962.
JD049834 - Sequence 30858 from Patent EP1572962.
JD496228 - Sequence 477252 from Patent EP1572962.
JD280288 - Sequence 261312 from Patent EP1572962.
JD315970 - Sequence 296994 from Patent EP1572962.
JD156502 - Sequence 137526 from Patent EP1572962.
JD439764 - Sequence 420788 from Patent EP1572962.
JD565780 - Sequence 546804 from Patent EP1572962.
JD048776 - Sequence 29800 from Patent EP1572962.
JD269154 - Sequence 250178 from Patent EP1572962.
JD469787 - Sequence 450811 from Patent EP1572962.
JD048812 - Sequence 29836 from Patent EP1572962.
JD182035 - Sequence 163059 from Patent EP1572962.
JD036490 - Sequence 17514 from Patent EP1572962.
JD040587 - Sequence 21611 from Patent EP1572962.
JD433905 - Sequence 414929 from Patent EP1572962.
JD053797 - Sequence 34821 from Patent EP1572962.
JD284391 - Sequence 265415 from Patent EP1572962.
JD197481 - Sequence 178505 from Patent EP1572962.
JD532641 - Sequence 513665 from Patent EP1572962.
JD113679 - Sequence 94703 from Patent EP1572962.
JD301376 - Sequence 282400 from Patent EP1572962.
JD091647 - Sequence 72671 from Patent EP1572962.
JD559276 - Sequence 540300 from Patent EP1572962.
JD036958 - Sequence 17982 from Patent EP1572962.
JD393021 - Sequence 374045 from Patent EP1572962.
S64316 - metabotropic glutamate receptor subtype 5 homolog {alternatively spliced, insertion} [human, brain, mRNA Partial, 279 nt].
JD564748 - Sequence 545772 from Patent EP1572962.
JD249443 - Sequence 230467 from Patent EP1572962.
JD172448 - Sequence 153472 from Patent EP1572962.
JD188275 - Sequence 169299 from Patent EP1572962.
JD142884 - Sequence 123908 from Patent EP1572962.
JD061851 - Sequence 42875 from Patent EP1572962.
JD419893 - Sequence 400917 from Patent EP1572962.
JD419892 - Sequence 400916 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
hsa05016 - Huntington's disease

Reactome (by CSHL, EBI, and GO)

Protein P41594 (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: GPRC1E, GRM5_HUMAN, MGLUR5, NM_001143831, NP_001137303, P41594
UCSC ID: uc001pcq.3
RefSeq Accession: NM_001143831
Protein: P41594 (aka GRM5_HUMAN)
CCDS: CCDS8283.1, CCDS44694.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001143831.2
exon count: 9CDS single in 3' UTR: no RNA size: 7855
ORF size: 3639CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7238.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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