GRM6
entrez
2916
canonical
uniprot
O15303
canonical
ensembl
ENSG00000113262
resolver
ensp
ENSP00000231188
resolver
ensp
ENSP00000430767
resolver
ensp
ENSP00000497110
resolver
enst
ENST00000231188
resolver
enst
ENST00000517717
resolver
enst
ENST00000650031
resolver
genesymbol
GRM6
resolver
genesymbol_syn
GPRC1F
resolver
genesymbol_syn
MGLUR6
resolver
hgnc
HGNC:4598
resolver
uniprot_entry
GRM6_HUMAN
resolver
amino_acid_sequence
MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQLKKEQGVHRLEAMLYALDRVNADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGRGDGDEVGVRCPGGVPPLRPAPPERVVAVVGASASSVSIMVANVLRLFAIPQISYASTAPELSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASEGNYGESGVEAFVQISREAGGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFANEDDIRRVLEAARQANLTGHFLWVGSDSWGAKTSPILSLEDVAVGAITILPKRASIDGFDQYFMTRSLENNRRNIWFAEFWEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEGKVQFVIDAVYAIAHALHSMHQALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPVMFNENGDAPGRYDIFQYQATNGSASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPGERKKMVKGVPCCWHCEACDGYRFQVDEFTCEACPGDMRPTPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVATTTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIYAITFLMVAEPGAAVCAARRLFLGLGTTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISPTSQLVITFSLTSLQVVGMIAWLGARPPHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIGCLGYSLLLMVTCTVYAIKARGVPETFNEAKPIGFTMYTTCIIWLAFVPIFFGTAQSAEKIYIQTTTLTVSLSLSASVSLGMLYVPKTYVILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK
uniprot
proteins
disease_involvement
DISEASE: Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1B is an autosomal recessive form associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark-adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b-waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced on response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background. {ECO:0000269|PubMed:15781871, ECO:0000269|PubMed:17405131, ECO:0000269|PubMed:23714322}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity). Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision. {ECO:0000250, ECO:0000269|PubMed:23452348}.
uniprot
proteins
mass_dalton
95468
uniprot
proteins
protein_family
G protein-coupled receptor 3 family
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15781871
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17405131
uniprot
proteins
pubmed
23452348
uniprot
proteins
pubmed
23714322
uniprot
proteins
pubmed
9215706
uniprot
proteins
sequence_length
877
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17405131}; Multi-pass membrane protein {ECO:0000269|PubMed:17405131}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17405131}; Multi-pass membrane protein {ECO:0000269|PubMed:17405131}. Golgi apparatus membrane {ECO:0000269|PubMed:17405131}; Multi-pass membrane protein {ECO:0000269|PubMed:17405131}. Cell projection, dendrite {ECO:0000250}. Note=Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the cell membrane.
uniprot
proteins
transmembrane_region
TRANSMEM 586..608; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 623..643; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 655..673; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 698..718; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 749..770; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 784..806; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 820..845; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins