UniProt functional annotation for Q14831



	UniProt functional annotation for Q14831

UniProt code: Q14831.

Organism: Homo sapiens (Human).

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

Function: G-protein coupled receptor activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development (PubMed:33500274). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide- binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase that it inhibits (PubMed:9473604). {ECO:0000269|PubMed:33500274, ECO:0000269|PubMed:9473604}.

Subunit: Homodimer (PubMed:33476302, PubMed:33500274). Interacts with PICK1. {ECO:0000250|UniProtKB:P35400, ECO:0000269|PubMed:33476302, ECO:0000269|PubMed:33500274}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:33500274}; Multi-pass membrane protein {ECO:0000255}.

Tissue specificity: Expressed in many areas of the brain, especially in the cerebral cortex, hippocampus, and cerebellum. Expression of GRM7 isoforms in non-neuronal tissues appears to be restricted to isoform 3 and isoform 4. {ECO:0000269|PubMed:12052533, ECO:0000269|PubMed:8840028}.

Ptm: N-glycosylated. {ECO:0000269|PubMed:33500274}.

Disease: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) [MIM:618922]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, severe to profound intellectual disability, early-onset epilepsy, and microcephaly. Neuroimaging shows cerebral atrophy, thin corpus callosum and hypomyelination in a majority of cases. Death in childhood may occur. {ECO:0000269|PubMed:27435318, ECO:0000269|PubMed:28097321, ECO:0000269|PubMed:32286009, ECO:0000269|PubMed:33476302, ECO:0000269|PubMed:33500274}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.

Miscellaneous: [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.

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

Sequence caution: [Isoform 3]: Sequence=AAM47557.1; Type=Frameshift; Evidence={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 activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development (PubMed:33500274). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide- binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase that it inhibits (PubMed:9473604). {ECO:0000269\|PubMed:33500274, ECO:0000269\|PubMed:9473604}.


Subunit:		Homodimer (PubMed:33476302, PubMed:33500274). Interacts with PICK1. {ECO:0000250\|UniProtKB:P35400, ECO:0000269\|PubMed:33476302, ECO:0000269\|PubMed:33500274}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:33500274}; Multi-pass membrane protein {ECO:0000255}.
Tissue specificity:		Expressed in many areas of the brain, especially in the cerebral cortex, hippocampus, and cerebellum. Expression of GRM7 isoforms in non-neuronal tissues appears to be restricted to isoform 3 and isoform 4. {ECO:0000269\|PubMed:12052533, ECO:0000269\|PubMed:8840028}.
Ptm:		N-glycosylated. {ECO:0000269\|PubMed:33500274}.
Disease:		Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) [MIM:618922]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, severe to profound intellectual disability, early-onset epilepsy, and microcephaly. Neuroimaging shows cerebral atrophy, thin corpus callosum and hypomyelination in a majority of cases. Death in childhood may occur. {ECO:0000269\|PubMed:27435318, ECO:0000269\|PubMed:28097321, ECO:0000269\|PubMed:32286009, ECO:0000269\|PubMed:33476302, ECO:0000269\|PubMed:33500274}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.
Miscellaneous:		[Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.
Similarity:		Belongs to the G-protein coupled receptor 3 family. {ECO:0000305}.
Sequence caution:		[Isoform 3]: Sequence=AAM47557.1; Type=Frameshift; Evidence={ECO:0000305};