UniProt functional annotation for Q13255



	UniProt functional annotation for Q13255

UniProt code: Q13255.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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). {ECO:0000250|UniProtKB:P97772, ECO:0000269|PubMed:24603153, ECO:0000269|PubMed:28886343, ECO:0000269|PubMed:7476890}.

Activity regulation: 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. {ECO:0000269|PubMed:24603153}.

Subunit: Homodimer; disulfide-linked. The PPXXF motif binds HOMER1, HOMER2 and HOMER3. Interacts with SIAH1, RYR1, RYR2, ITPR1, SHANK1, SHANK3 and TAMALIN (By similarity). {ECO:0000250}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:24603153}; Multi-pass membrane protein {ECO:0000269|PubMed:24603153}.

Tissue specificity: Detected in brain.

Disease: Spinocerebellar ataxia, autosomal recessive, 13 (SCAR13) [MIM:614831]: 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. {ECO:0000269|PubMed:22901947, ECO:0000269|PubMed:26308914}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Spinocerebellar ataxia 44 (SCA44) [MIM:617691]: 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. {ECO:0000269|PubMed:28886343}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 3 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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). {ECO:0000250\|UniProtKB:P97772, ECO:0000269\|PubMed:24603153, ECO:0000269\|PubMed:28886343, ECO:0000269\|PubMed:7476890}.


Activity regulation:		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. {ECO:0000269\|PubMed:24603153}.
Subunit:		Homodimer; disulfide-linked. The PPXXF motif binds HOMER1, HOMER2 and HOMER3. Interacts with SIAH1, RYR1, RYR2, ITPR1, SHANK1, SHANK3 and TAMALIN (By similarity). {ECO:0000250}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:24603153}; Multi-pass membrane protein {ECO:0000269\|PubMed:24603153}.
Tissue specificity:		Detected in brain.
Disease:		Spinocerebellar ataxia, autosomal recessive, 13 (SCAR13) [MIM:614831]: 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. {ECO:0000269\|PubMed:22901947, ECO:0000269\|PubMed:26308914}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Spinocerebellar ataxia 44 (SCA44) [MIM:617691]: 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. {ECO:0000269\|PubMed:28886343}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 3 family. {ECO:0000305}.