Homo sapiens Protein: GRM1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-477037.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | GRM1 | ||||||||||||||||||||||
Protein Name | glutamate receptor, metabotropic 1 | ||||||||||||||||||||||
Synonyms | GPRC1A; MGLU1; MGLUR1; PPP1R85; SCAR13; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000425599 | ||||||||||||||||||||||
InnateDB Gene | IDBG-97580 (GRM1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. {ECO:0000269PubMed:24603153, ECO:0000269PubMed:7476890}. | ||||||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000269PubMed:24603153}; Multi-pass membrane protein {ECO:0000269PubMed:24603153}. | ||||||||||||||||||||||
Disease Associations | 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:0000269PubMed:22901947}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Detected in brain. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000162
GPCR, family 3, metabotropic glutamate receptor IPR000202 GPCR, family 3, metabotropic glutamate receptor 5 IPR000337 GPCR, family 3 IPR001256 GPCR, family 3, metabotropic glutamate receptor 1 IPR001828 Extracellular ligand-binding receptor IPR011500 GPCR, family 3, nine cysteines domain IPR017978 GPCR, family 3, C-terminal IPR028082 Periplasmic binding protein-like I |
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PFAM |
PF01094
PF07562 PF00003 |
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PRINTS |
PR00593
PR01055 PR00248 PR01051 |
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PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13255 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13255 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2911 | ||||||||||||||||||||||
UniGene | Hs.32945 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:4593 | ||||||||||||||||||||||
OMIM | 604473 | ||||||||||||||||||||||
CCDS | CCDS47497 | ||||||||||||||||||||||
HPRD | 05129 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AL031769 AL035698 AL096867 AL592423 BC136280 BC143779 L76627 L76631 U31215 U31216 | ||||||||||||||||||||||
GenPept | AAA87843 AAA87844 AAB05337 AAB05338 AAI36281 CAH71181 CAH71182 CAI20335 CAI20336 CAI22468 CAI22469 | ||||||||||||||||||||||