GRM7
entrez
2917
canonical
uniprot
Q14831
canonical
ensembl
ENSG00000196277
resolver
ensp
ENSP00000350348
resolver
ensp
ENSP00000417536
resolver
ensp
ENSP00000419835
resolver
ensp
ENSP00000516621
resolver
genesymbol
GRM7
resolver
genesymbol_syn
GPRC1G
resolver
genesymbol_syn
MGLUR7
resolver
hgnc
HGNC:4599
resolver
uniprot
B2R693
resolver
uniprot
B7ZKK0
resolver
uniprot
B9EGG9
resolver
uniprot
Q59G95
resolver
uniprot
Q8NFS2
resolver
uniprot
Q8NFS3
resolver
uniprot
Q8NFS4
resolver
uniprot_entry
B2R693_HUMAN
resolver
uniprot_entry
B7ZKK0_HUMAN
resolver
uniprot_entry
B9EGG9_HUMAN
resolver
uniprot_entry
GRM7_HUMAN
resolver
uniprot_entry
Q59G95_HUMAN
resolver
uniprot_sec
Q8NFS2
resolver
uniprot_sec
Q8NFS3
resolver
uniprot_sec
Q8NFS4
resolver
amino_acid_sequence
MVQLRKLLRVLTLMKFPCCVLEVLLCALAAAARGQEMYAPHSIRIEGDVTLGGLFPVHAKGPSGVPCGDIKRENGIHRLEAMLYALDQINSDPNLLPNVTLGARILDTCSRDTYALEQSLTFVQALIQKDTSDVRCTNGEPPVFVKPEKVVGVIGASGSSVSIMVANILRLFQIPQISYASTAPELSDDRRYDFFSRVVPPDSFQAQAMVDIVKALGWNYVSTLASEGSYGEKGVESFTQISKEAGGLCIAQSVRIPQERKDRTIDFDRIIKQLLDTPNSRAVVIFANDEDIKQILAAAKRADQVGHFLWVGSDSWGSKINPLHQHEDIAEGAITIQPKRATVEGFDAYFTSRTLENNRRNVWFAEYWEENFNCKLTISGSKKEDTDRKCTGQERIGKDSNYEQEGKVQFVIDAVYAMAHALHHMNKDLCADYRGVCPEMEQAGGKKLLKYIRNVNFNGSAGTPVMFNKNGDAPGRYDIFQYQTTNTSNPGYRLIGQWTDELQLNIEDMQWGKGVREIPASVCTLPCKPGQRKKTQKGTPCCWTCEPCDGYQYQFDEMTCQHCPYDQRPNENRTGCQDIPIIKLEWHSPWAVIPVFLAMLGIIATIFVMATFIRYNDTPIVRASGRELSYVLLTGIFLCYIITFLMIAKPDVAVCSFRRVFLGLGMCISYAALLTKTNRIYRIFEQGKKSVTAPRLISPTSQLAITSSLISVQLLGVFIWFGVDPPNIIIDYDEHKTMNPEQARGVLKCDITDLQIICSLGYSILLMVTCTVYAIKTRGVPENFNEAKPIGFTMYTTCIVWLAFIPIFFGTAQSAEKLYIQTTTLTISMNLSASVALGMLYMPKVYIIIFHPELNVQKRKRSFKAVVTAATMSSRLSHKPSDRPNGEAKTELCENVDPNSPAAKKKYVSYNNLVI
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
102251
uniprot
proteins
mutagenesis
MUTAGEN 622; /note="R->Q: Rescues axon outgrowth defects when expressed in a heterologous system. Unchanged protein abundance. Does not affect localization to the plasma membrane. Does not affect N-glycosylation. Does not affect homodimerization."; /evidence="ECO:0000269|PubMed:33500274"; MUTAGEN 658; /note="R->W: Does not rescue axon outgrowth defects when expressed in a heterologous system; when associated with K-675. Decreased protein abundance due to increased proteasomal degradation; when associated with K-675. Loss of localization to the cell membrane; when associated with K-675."; /evidence="ECO:0000269|PubMed:33500274"; MUTAGEN 675; /note="T->K: Does not rescue axon outgrowth defects when expressed in a heterologous system; when associated with W-658. Decreased protein abundance due to increased proteasomal degradation; when associated with W-658. Loss of localization to the cell membrane; when associated with W-658."; /evidence="ECO:0000269|PubMed:33500274
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:33500274}.
uniprot
proteins
protein_family
G protein-coupled receptor 3 family
uniprot
proteins
pubmed
11163549
uniprot
proteins
pubmed
12052533
uniprot
proteins
pubmed
27435318
uniprot
proteins
pubmed
28097321
uniprot
proteins
pubmed
32286009
uniprot
proteins
pubmed
33476302
uniprot
proteins
pubmed
33500274
uniprot
proteins
pubmed
8840028
uniprot
proteins
pubmed
9144652
uniprot
proteins
pubmed
9473604
uniprot
proteins
sequence_length
915
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:33500274}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 591..615; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 628..648; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 655..675; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 703..723; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 754..775; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 789..810; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 826..850; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins