T3DB: Metabotropic glutamate receptor 6

Name	Metabotropic glutamate receptor 6
Synonyms	GPRC1F MGLUR6
Gene Name	GRM6
Organism	Human
Amino acid sequence	>lcl\|BSEQ0013738\|Metabotropic glutamate receptor 6 MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQL KKEQGVHRLEAMLYALDRVNADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGR GDGDEVGVRCPGGVPPLRPAPPERVVAVVGASASSVSIMVANVLRLFAIPQISYASTAPE LSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASEGNYGESGVEAFVQISREA GGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFANEDDIRRVLEAARQANLTGH FLWVGSDSWGAKTSPILSLEDVAVGAITILPKRASIDGFDQYFMTRSLENNRRNIWFAEF WEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEGKVQFVIDAVYAIAHALHSMHQ ALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPVMFNENGDAPGRYDIFQYQATNG SASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPGERKKMVKGVPCCWHC EACDGYRFQVDEFTCEACPGDMRPTPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVAT TTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIYAITFLMVAEPGAAVCAARRLFLGLG TTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISPTSQLVITFSLTSLQVVGMIAWLGARP PHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIGCLGYSLLLMVTCTVYAIKARGVPETFN EAKPIGFTMYTTCIIWLAFVPIFFGTAQSAEKIYIQTTTLTVSLSLSASVSLGMLYVPKT YVILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK
Number of residues	877
Molecular Weight	95466.77
Theoretical pI	Not Available
GO Classification	Functions protein homodimerization activity group III metabotropic glutamate receptor activity G-protein coupled receptor activity glutamate receptor activity Processes detection of visible light synaptic transmission locomotory behavior positive regulation of calcium ion import retina development in camera-type eye regulation of synaptic transmission, glutamatergic G-protein coupled glutamate receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway detection of light stimulus involved in visual perception Components new growing cell tip plasma membrane endoplasmic reticulum membrane integral component of plasma membrane Golgi membrane dendrite presynaptic membrane
General Function	Protein homodimerization activity
Specific 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.
Pfam Domain Function	7tm_3 (PF00003 ) ANF_receptor (PF01094 ) NCD3G (PF07562 )
Transmembrane Regions	586-608 623-643 655-673 698-718 749-770 784-806 820-845
GenBank Protein ID	Not Available
UniProtKB ID	O15303
UniProtKB Entry Name	GRM6_HUMAN
Cellular Location	Cell membrane
Gene sequence	>lcl\|BSEQ0013739\|Metabotropic glutamate receptor 6 (GRM6) ATGGCGCGGCCCCGGAGAGCCCGGGAGCCGCTGCTCGTGGCGCTGCTGCCGCTGGCGTGG CTGGCGCAGGCGGGCCTGGCGCGCGCGGCGGGCTCTGTGCGCCTGGCGGGCGGCCTGACG CTGGGCGGCCTGTTCCCGGTGCACGCGCGGGGCGCGGCGGGCCGGGCGTGCGGGCAGCTG AAGAAGGAGCAGGGCGTGCACCGGCTGGAGGCCATGCTGTACGCGCTGGACCGCGTCAAC GCCGACCCCGAGCTGCTGCCCGGCGTGCGCCTGGGCGCGCGGCTGCTGGACACCTGCTCG CGGGACACCTACGCGCTGGAGCAGGCGCTGAGCTTCGTGCAGGCGCTGATCCGCGGCCGC GGCGACGGCGACGAGGTGGGCGTGCGCTGCCCGGGAGGCGTCCCTCCGCTGCGCCCCGCG CCCCCCGAGCGCGTCGTGGCCGTCGTGGGCGCCTCGGCCAGCTCCGTCTCCATCATGGTC GCCAACGTGCTGCGCCTGTTTGCGATACCCCAGATCAGCTATGCCTCCACAGCCCCGGAG CTCAGCGACTCCACACGCTATGACTTCTTCTCCCGGGTGGTGCCACCCGACTCCTACCAG GCGCAGGCCATGGTGGACATCGTGAGGGCACTGGGATGGAACTATGTGTCCACGCTGGCC TCCGAGGGCAACTATGGCGAAAGTGGGGTTGAGGCCTTCGTTCAGATCTCCCGAGAGGCT GGGGGGGTCTGTATTGCCCAGTCTATCAAGATTCCCAGGGAACCAAAGCCAGGAGAGTTC AGCAAGGTGATCAGGAGACTCATGGAGACGCCCAACGCCCGGGGCATCATCATCTTTGCC AATGAGGATGACATCAGGCGGGTCCTGGAGGCAGCTCGCCAGGCCAACCTGACCGGCCAC TTCCTGTGGGTCGGCTCAGACAGCTGGGGAGCCAAGACCTCACCCATCTTGAGCCTGGAG GACGTGGCCGTTGGGGCCATCACCATCCTGCCCAAAAGGGCCTCCATCGACGGATTTGAC CAGTACTTCATGACTCGATCCCTGGAGAACAACCGCAGGAACATCTGGTTCGCCGAGTTC TGGGAAGAGAATTTTAACTGCAAACTGACCAGCTCAGGTACCCAGTCAGACGATTCCACC CGCAAATGCACAGGCGAGGAACGCATCGGCCGGGACTCCACCTACGAGCAGGAGGGCAAG GTGCAGTTTGTGATTGATGCGGTGTACGCCATTGCCCACGCCCTCCACAGCATGCACCAG GCGCTCTGCCCTGGGCACACAGGCCTGTGCCCGGCGATGGAACCCACTGATGGGCGGATG CTTCTGCAGTACATTCGAGCTGTCCGCTTCAATGGCAGCGCAGGAACCCCTGTGATGTTC AACGAGAACGGAGATGCGCCCGGGCGGTACGACATCTTCCAGTACCAGGCGACCAATGGC AGTGCCAGCAGTGGCGGGTACCAGGCAGTGGGCCAGTGGGCAGAGACCCTCAGACTGGAT GTGGAGGCCCTGCAGTGGTCTGGCGACCCCCACGAGGTGCCCTCGTCTCTGTGCAGCCTG CCCTGCGGGCCGGGGGAGCGGAAGAAGATGGTGAAGGGCGTCCCCTGCTGTTGGCACTGC GAGGCCTGTGACGGGTACCGCTTCCAGGTGGACGAGTTCACATGCGAGGCCTGTCCTGGG GACATGAGGCCCACGCCCAACCACACGGGCTGCCGCCCCACACCTGTGGTGCGCCTGAGC TGGTCCTCCCCCTGGGCAGCCCCGCCGCTCCTCCTGGCCGTGCTGGGCATCGTGGCCACT ACCACGGTGGTGGCCACCTTCGTGCGGTACAACAACACGCCCATCGTCCGGGCCTCGGGC CGAGAGCTCAGCTACGTCCTCCTCACCGGCATCTTCCTCATCTACGCCATCACCTTCCTC ATGGTGGCTGAGCCTGGGGCCGCGGTCTGTGCCGCCCGCAGGCTCTTCCTGGGCCTGGGC ACGACCCTCAGCTACTCTGCCCTGCTCACCAAGACCAACCGTATCTACCGCATCTTTGAG CAGGGCAAGCGCTCGGTCACACCCCCTCCCTTCATCAGCCCCACCTCACAGCTGGTCATC ACCTTCAGCCTCACCTCCCTGCAGGTGGTGGGGATGATAGCATGGCTGGGGGCCCGGCCC CCACACAGCGTGATTGACTATGAGGAACAGCGGACGGTGGACCCCGAGCAGGCCAGAGGG GTGCTCAAGTGCGACATGTCGGATCTGTCTCTCATCGGCTGCCTGGGCTACAGCCTCCTG CTCATGGTCACGTGCACAGTGTACGCCATCAAGGCCCGTGGCGTGCCCGAGACCTTCAAC GAGGCCAAGCCCATCGGCTTCACCATGTACACCACCTGCATCATCTGGCTGGCATTCGTG CCCATCTTCTTTGGCACTGCCCAGTCAGCTGAAAAGATCTACATCCAGACAACCACGCTA ACCGTGTCCTTGAGCCTGAGTGCCTCGGTGTCCCTCGGCATGCTCTACGTACCCAAAACC TACGTCATCCTCTTCCATCCAGAGCAGAATGTGCAGAAGCGAAAGCGGAGCCTCAAGGCC ACCTCCACGGTGGCAGCCCCACCCAAGGGCGAGGATGCAGAGGCCCACAAGTAG
GenBank Gene ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:4598
Chromosome Location	5
Locus	Not Available
References	Hashimoto T, Inazawa J, Okamoto N, Tagawa Y, Bessho Y, Honda Y, Nakanishi S: The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6. Eur J Neurosci. 1997 Jun;9(6):1226-35. 9215706 Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. 15372022 Devi S, Markandeya Y, Maddodi N, Dhingra A, Vardi N, Balijepalli RC, Setaluri V: Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes. Pigment Cell Melanoma Res. 2013 May;26(3):348-56. doi: 10.1111/pcmr.12083. Epub 2013 Mar 27. 23452348 Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS: Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9. Epub 2005 Mar 21. 15781871 Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. 16959974 Zeitz C, Forster U, Neidhardt J, Feil S, Kalin S, Leifert D, Flor PJ, Berger W: Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum Mutat. 2007 Aug;28(8):771-80. 17405131 Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM: Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25. 23714322