GRM1
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.
Full Name
glutamate metabotropic receptor 1
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 (PubMed:24603153, PubMed:28886343, PubMed:7476890).
May function in the light response in the retina (By similarity).
Biological Process
Activation of MAPK activity Source: Ensembl
Activation of MAPKK activity Source: Ensembl
Cellular response to electrical stimulus Source: Ensembl
Chemical synaptic transmission Source: ProtInc
G protein-coupled glutamate receptor signaling pathway Source: UniProtKB
G protein-coupled receptor signaling pathway Source: UniProtKB
L-glutamate import across plasma membrane Source: Ensembl
Locomotory behavior Source: Ensembl
Positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway Source: UniProtKB
Regulation of sensory perception of pain Source: Ensembl
Regulation of synaptic transmission, glutamatergic Source: GO_Central
Sensory perception of pain Source: Ensembl
Cellular Location
Cell membrane
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, 13 (SCAR13):
A form of spinocerebellar ataxia, 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.
Spinocerebellar ataxia 44 (SCA44):
A form of spinocerebellar ataxia, 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. SCA44 is a slowly progressive, autosomal dominant form.
Topology
Extracellular: 19-592
Helical: 593-615
Cytoplasmic: 616-629
Helical: 630-650
Extracellular: 651-658
Helical: 659-680
Cytoplasmic: 681-703
Helical: 704-727
Extracellular: 728-750
Helical: 751-772
Cytoplasmic: 773-785
Helical: 786-807
Extracellular: 808-815
Helical: 816-840
Cytoplasmic: 841-1194