OR6Q1_HUMAN
ID OR6Q1_HUMAN Reviewed; 317 AA.
AC Q8NGQ2; B9EKW1; Q6IFH1; Q96R34;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Olfactory receptor 6Q1;
DE AltName: Full=Olfactory receptor OR11-226;
GN Name=OR6Q1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S.,
RA Tsutsumi S., Aburatani H., Asai K., Akiyama Y.;
RT "Genome-wide discovery and analysis of human seven transmembrane helix
RT receptor genes.";
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-287.
RX PubMed=12213199; DOI=10.1006/geno.2002.6830;
RA Fuchs T., Malecova B., Linhart C., Sharan R., Khen M., Herwig R.,
RA Shmulevich D., Elkon R., Steinfath M., O'Brien J.K., Radelof U.,
RA Lehrach H., Lancet D., Shamir R.;
RT "DEFOG: a practical scheme for deciphering families of genes.";
RL Genomics 80:295-302(2002).
RN [5]
RP IDENTIFICATION.
RX PubMed=14983052; DOI=10.1073/pnas.0307882100;
RA Malnic B., Godfrey P.A., Buck L.B.;
RT "The human olfactory receptor gene family.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:2584-2589(2004).
RN [6]
RP ERRATUM OF PUBMED:14983052.
RA Malnic B., Godfrey P.A., Buck L.B.;
RL Proc. Natl. Acad. Sci. U.S.A. 101:7205-7205(2004).
RN [7]
RP POLYMORPHISM.
RX PubMed=12730696; DOI=10.1038/ng1160;
RA Menashe I., Man O., Lancet D., Gilad Y.;
RT "Different noses for different people.";
RL Nat. Genet. 34:143-144(2003).
RN [8]
RP VARIANT ILE-172.
RX PubMed=21248752; DOI=10.1038/nature09639;
RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H.,
RA Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J.,
RA Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M.,
RA Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L.,
RA Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J.,
RA Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A.,
RA Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K.,
RA Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.;
RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene
RT PBRM1 in renal carcinoma.";
RL Nature 469:539-542(2011).
CC -!- FUNCTION: Odorant receptor. {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC -!- POLYMORPHISM: A single nucleotide deletion at position Leu-229 in the
CC gene coding for this protein is responsible for functional diversity
CC thus producing a pseudogene. The deletion is more frequent in African-
CC Americans than in non-Africans.
CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
CC {ECO:0000255|PROSITE-ProRule:PRU00521}.
CC -!- WEB RESOURCE: Name=Human Olfactory Receptor Data Exploratorium (HORDE);
CC URL="http://genome.weizmann.ac.il/horde/card/index/symbol:OR6Q1";
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DR EMBL; AB065737; BAC05958.1; -; Genomic_DNA.
DR EMBL; AP003401; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC151147; AAI51148.1; -; mRNA.
DR EMBL; AF399609; AAK95094.1; -; Genomic_DNA.
DR EMBL; BK004291; DAA04689.1; -; Genomic_DNA.
DR CCDS; CCDS31541.1; -.
DR RefSeq; NP_001005186.2; NM_001005186.2.
DR AlphaFoldDB; Q8NGQ2; -.
DR SMR; Q8NGQ2; -.
DR BioGRID; 128598; 1.
DR STRING; 9606.ENSP00000485678; -.
DR GlyGen; Q8NGQ2; 2 sites.
DR iPTMnet; Q8NGQ2; -.
DR PhosphoSitePlus; Q8NGQ2; -.
DR BioMuta; OR6Q1; -.
DR DMDM; 296439254; -.
DR MassIVE; Q8NGQ2; -.
DR PaxDb; Q8NGQ2; -.
DR PeptideAtlas; Q8NGQ2; -.
DR PRIDE; Q8NGQ2; -.
DR Antibodypedia; 78299; 114 antibodies from 19 providers.
DR DNASU; 219952; -.
DR Ensembl; ENST00000302622.4; ENSP00000307734.3; ENSG00000279051.5.
DR GeneID; 219952; -.
DR KEGG; hsa:219952; -.
DR MANE-Select; ENST00000302622.4; ENSP00000307734.3; NM_001005186.2; NP_001005186.2.
DR UCSC; uc010rjz.2; human.
DR CTD; 219952; -.
DR GeneCards; OR6Q1; -.
DR HGNC; HGNC:15302; OR6Q1.
DR HPA; ENSG00000279051; Not detected.
DR neXtProt; NX_Q8NGQ2; -.
DR PharmGKB; PA32602; -.
DR VEuPathDB; HostDB:ENSG00000279051; -.
DR eggNOG; ENOG502SI0W; Eukaryota.
DR GeneTree; ENSGT01040000240424; -.
DR HOGENOM; CLU_012526_1_0_1; -.
DR InParanoid; Q8NGQ2; -.
DR OMA; SWGTCIR; -.
DR OrthoDB; 1028058at2759; -.
DR PhylomeDB; Q8NGQ2; -.
DR TreeFam; TF337475; -.
DR PathwayCommons; Q8NGQ2; -.
DR Reactome; R-HSA-9752946; Expression and translocation of olfactory receptors.
DR BioGRID-ORCS; 219952; 10 hits in 667 CRISPR screens.
DR GeneWiki; OR6Q1; -.
DR GenomeRNAi; 219952; -.
DR Pharos; Q8NGQ2; Tdark.
DR PRO; PR:Q8NGQ2; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8NGQ2; protein.
DR ExpressionAtlas; Q8NGQ2; baseline and differential.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0004930; F:G protein-coupled receptor activity; IEA:UniProtKB-KW.
DR GO; GO:0004984; F:olfactory receptor activity; IEA:InterPro.
DR InterPro; IPR000276; GPCR_Rhodpsn.
DR InterPro; IPR017452; GPCR_Rhodpsn_7TM.
DR InterPro; IPR000725; Olfact_rcpt.
DR Pfam; PF13853; 7tm_4; 1.
DR PRINTS; PR00237; GPCRRHODOPSN.
DR PRINTS; PR00245; OLFACTORYR.
DR PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Disulfide bond; G-protein coupled receptor; Glycoprotein;
KW Membrane; Olfaction; Receptor; Reference proteome; Sensory transduction;
KW Transducer; Transmembrane; Transmembrane helix.
FT CHAIN 1..317
FT /note="Olfactory receptor 6Q1"
FT /id="PRO_0000150636"
FT TOPO_DOM 1..27
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 28..48
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 49..56
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 57..77
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 78..103
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 104..124
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 125..143
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 144..164
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 165..201
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 202..221
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 222..241
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 242..262
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 263..275
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 276..296
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 297..317
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 7
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 95
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 101..193
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00521"
FT VARIANT 172
FT /note="F -> I (found in a renal cell carcinoma sample;
FT somatic mutation)"
FT /evidence="ECO:0000269|PubMed:21248752"
FT /id="VAR_064742"
FT VARIANT 316
FT /note="G -> A (in dbSNP:rs1374570)"
FT /id="VAR_057561"
FT CONFLICT 100
FT /note="D -> G (in Ref. 1; BAC05958, 3; AAI51148 and 4;
FT AAK95094)"
FT /evidence="ECO:0000305"
FT CONFLICT 173
FT /note="Y -> C (in Ref. 1; BAC05958, 3; AAI51148 and 4;
FT AAK95094)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 317 AA; 35736 MW; 1312FAA42BC80E58 CRC64;
MQPYTKNWTQ VTEFVMMGFA GIHEAHLLFF ILFLTMYLFT LVENLAIILV VGLDHRLRRP
MYFFLTHLSC LEIWYTSVTV PKMLAGFIGV DGGKNISYAD CLSQLFIFTF LGATECFLLA
AMAYDRYVAI CMPLHYGAFV SWGTCIRLAA ACWLVGFLTP ILPIYLLSQL TFYGPNVIDH
FSCDASPLLA LSCSDVTWKE TVDFLVSLAV LLASSMVIAV SYGNIVWTLL HIRSAAERWK
AFSTCAAHLT VVSLFYGTLF FMYVQTKVTS SINFNKVVSV FYSVVTPMLN PLIYSLRNKE
VKGALGRVFS LNFWKGQ