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Reviewed, UniProtKB/Swiss-Prot O15303 (GRM6_HUMAN)

Last modified June 16, 2009. Version 73. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Metabotropic glutamate receptor 6
      Short name=mGluR6
Gene names
Name: GRM6
Synonyms: GPRC1F, MGLUR6
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length877 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity.

Subcellular location

Cell membrane; Multi-pass membrane protein.

Involvement in disease

Defects in GRM6 are the cause of congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]. This disorder consits of a previously unrecognized, autosomal recessive form of congenital night blindness 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. Ref.3

Sequence similarities

Belongs to the G-protein coupled receptor 3 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 877853Metabotropic glutamate receptor 6
PRO_0000012934

Regions

Topological domain25 – 585561Extracellular Potential
Transmembrane586 – 608231 Potential
Topological domain609 – 62214Cytoplasmic Potential
Transmembrane623 – 643212 Potential
Topological domain644 – 65411Extracellular Potential
Transmembrane655 – 673193 Potential
Topological domain674 – 69724Cytoplasmic Potential
Transmembrane698 – 718214 Potential
Topological domain719 – 74830Extracellular Potential
Transmembrane749 – 770225 Potential
Topological domain771 – 78313Cytoplasmic Potential
Transmembrane784 – 806236 Potential
Topological domain807 – 81913Extracellular Potential
Transmembrane820 – 845267 Potential
Topological domain846 – 87732Cytoplasmic Potential

Amino acid modifications

Glycosylation2961N-linked (GlcNAc...) Potential
Glycosylation4511N-linked (GlcNAc...) Potential
Glycosylation4791N-linked (GlcNAc...) Potential
Glycosylation5671N-linked (GlcNAc...) Potential

Natural variations

Natural variant1501G → S in CSNB1B. Ref.3
VAR_030756
Natural variant1911S → F in a breast cancer sample; somatic mutation. Ref.4
VAR_036195
Natural variant2271E → V: dbSNP rs17078898.
VAR_055876
Natural variant2361I → F: dbSNP rs17078896.
VAR_055877
Natural variant7121M → V: dbSNP rs17078877.
VAR_055878
Natural variant7811E → K in CSNB1B. Ref.3
VAR_030757
Natural variant8071A → V: dbSNP rs17078874.
VAR_055879
Natural variant8171T → S: dbSNP rs17078857.
VAR_055880

Experimental info

Sequence conflict591Q → P in AAB82068. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O15303-1 [UniParc].

Last modified June 16, 2009. Version 2.
Checksum: 2AB27C5627B388C6

FASTA87795,468
        10         20         30         40         50         60 
MARPRRAREP LLVALLPLAW LAQAGLARAA GSVRLAGGLT LGGLFPVHAR GAAGRACGQL 

        70         80         90        100        110        120 
KKEQGVHRLE AMLYALDRVN ADPELLPGVR LGARLLDTCS RDTYALEQAL SFVQALIRGR 

       130        140        150        160        170        180 
GDGDEVGVRC PGGVPPLRPA PPERVVAVVG ASASSVSIMV ANVLRLFAIP QISYASTAPE 

       190        200        210        220        230        240 
LSDSTRYDFF SRVVPPDSYQ AQAMVDIVRA LGWNYVSTLA SEGNYGESGV EAFVQISREA 

       250        260        270        280        290        300 
GGVCIAQSIK IPREPKPGEF SKVIRRLMET PNARGIIIFA NEDDIRRVLE AARQANLTGH 

       310        320        330        340        350        360 
FLWVGSDSWG AKTSPILSLE DVAVGAITIL PKRASIDGFD QYFMTRSLEN NRRNIWFAEF 

       370        380        390        400        410        420 
WEENFNCKLT SSGTQSDDST RKCTGEERIG RDSTYEQEGK VQFVIDAVYA IAHALHSMHQ 

       430        440        450        460        470        480 
ALCPGHTGLC PAMEPTDGRM LLQYIRAVRF NGSAGTPVMF NENGDAPGRY DIFQYQATNG 

       490        500        510        520        530        540 
SASSGGYQAV GQWAETLRLD VEALQWSGDP HEVPSSLCSL PCGPGERKKM VKGVPCCWHC 

       550        560        570        580        590        600 
EACDGYRFQV DEFTCEACPG DMRPTPNHTG CRPTPVVRLS WSSPWAAPPL LLAVLGIVAT 

       610        620        630        640        650        660 
TTVVATFVRY NNTPIVRASG RELSYVLLTG IFLIYAITFL MVAEPGAAVC AARRLFLGLG 

       670        680        690        700        710        720 
TTLSYSALLT KTNRIYRIFE QGKRSVTPPP FISPTSQLVI TFSLTSLQVV GMIAWLGARP 

       730        740        750        760        770        780 
PHSVIDYEEQ RTVDPEQARG VLKCDMSDLS LIGCLGYSLL LMVTCTVYAI KARGVPETFN 

       790        800        810        820        830        840 
EAKPIGFTMY TTCIIWLAFV PIFFGTAQSA EKIYIQTTTL TVSLSLSASV SLGMLYVPKT 

       850        860        870 
YVILFHPEQN VQKRKRSLKA TSTVAAPPKG EDAEAHK 

« Hide

References

« Hide 'large scale' references
[1]"The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6."
Hashimoto T., Inazawa J., Okamoto N., Tagawa Y., Bessho Y., Honda Y., Nakanishi S.
Eur. J. Neurosci. 9:1226-1235(1997) [PubMed: 9215706] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., 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 J.P., 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 J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed: 15372022] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6."
Dryja T.P., McGee T.L., Berson E.L., Fishman G.A., Sandberg M.A., Alexander K.R., Derlacki D.J., Rajagopalan A.S.
Proc. Natl. Acad. Sci. U.S.A. 102:4884-4889(2005) [PubMed: 15781871] [Abstract]
Cited for: VARIANTS CSNB1B SER-150 AND LYS-781.
[4]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-191.
+Additional computationally mapped references.

Cross-references

Sequence databases

U82083 Genomic DNA. Translation: AAB82068.1.
AC104117 Genomic DNA. No translation available.
IPIIPI00006089.
UniGeneHs.248131

3D structure databases

HSSPHSSP built from PDB template 1EWK based on UniProtKB P23385.
ModBaseSearch...

Protein family/group databases

GPCRDBSearch...

Proteomic databases

PRIDEO15303.

Genome annotation databases

EnsemblENSG00000113262. Homo sapiens. [Contig view]

Organism-specific databases

GeneCardsGC05M178324.
H-InvDBHIX0024983.
HGNCHGNC:4598. GRM6.
MIM257270. phenotype.
604096. gene.
Orphanet215. Night blindness, stationary, congenital.
PharmGKBPA28995.
GenAtlasSearch...

Phylogenomic databases

HOVERGENO15303.

Gene expression databases

ArrayExpressO15303.
BgeeO15303.
CleanExHS_GRM6.
GermOnlineENSG00000113262. Homo sapiens.

Family and domain databases

InterProIPR001828. ANF_lig_bd_rcpt.
IPR000337. GPCR_3.
IPR017978. GPCR_3_C.
IPR017979. GPCR_3_CS.
IPR000162. GPCR_3_mtglu_rcpt.
IPR000112. GPCR_3_mtglu_rcpt_6.
IPR011500. GPCR_3_NCR.
[Graphical view]
PfamPF00003. 7tm_3. 1 hit.
PF01094. ANF_receptor. 1 hit.
PF07562. NCD3G. 1 hit.
[Graphical view]
PRINTSPR00248. GPCRMGR.
PR01056. MTABOTROPC6R.
PR00593. MTABOTROPICR.
PROSITEPS00979. G_PROTEIN_RECEP_F3_1. 1 hit.
PS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
PS00981. G_PROTEIN_RECEP_F3_3. 1 hit.
PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

SOURCESearch...

Entry information

Entry nameGRM6_HUMAN
AccessionPrimary (citable) accession number: O15303
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 16, 2009
Last modified: June 16, 2009
This is version 73 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents