OR4E1_HUMAN
ID OR4E1_HUMAN Reviewed; 315 AA.
AC P0C645; A0A126GWU0;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 2.
DT 03-AUG-2022, entry version 81.
DE RecName: Full=Olfactory receptor 4E1;
DE AltName: Full=Olfactory receptor OR14-43;
GN Name=OR4E1; Synonyms=OR4E1P;
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] (NON-FUNCTIONAL ALLELE), AND
RP POLYMORPHISM.
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 [GENOMIC DNA].
RA Mainland J.D., Li Y.R., Zhou T., Liu W.L.L., Matsunami H.;
RT "Human olfactory receptor responses to odorants.";
RL Submitted (DEC-2014) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (NON-FUNCTIONAL ALLELE), AND
RP POLYMORPHISM.
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=17973576; DOI=10.1371/journal.pbio.0050284;
RA Menashe I., Abaffy T., Hasin Y., Goshen S., Yahalom V., Luetje C.W.,
RA Lancet D.;
RT "Genetic elucidation of human hyperosmia to isovaleric acid.";
RL PLoS Biol. 5:2462-2468(2007).
CC -!- FUNCTION: Odorant receptor. {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC -!- POLYMORPHISM: There at least 2 alleles for OR4E1. A non-functional
CC allele results from a polymorphism at position 197 (dbSNP rs199890040),
CC which leads to a frameshift, premature truncation of the coding region
CC and hence pseudogenization. The presence of various combinations of
CC functional (olfactory receptors) and non-functional (olfactory receptor
CC segregating pseudogenes) alleles may underlie differences in olfactory
CC sensitivity between individuals (hyperosmia, hyposmia or even anosmia).
CC {ECO:0000269|PubMed:12213199, ECO:0000269|PubMed:17973576,
CC ECO:0000269|Ref.1}.
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:OR4E1P";
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DR EMBL; AB065562; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KP290730; ALI87888.1; -; Genomic_DNA.
DR EMBL; AC243972; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF399450; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BK004671; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS86370.1; -.
DR RefSeq; NP_001304036.1; NM_001317107.1.
DR AlphaFoldDB; P0C645; -.
DR SMR; P0C645; -.
DR GlyGen; P0C645; 1 site.
DR BioMuta; OR4E1; -.
DR DMDM; 166215771; -.
DR PeptideAtlas; P0C645; -.
DR PRIDE; P0C645; -.
DR DNASU; 26687; -.
DR Ensembl; ENST00000641792.2; ENSP00000493111.1; ENSG00000276240.3.
DR GeneID; 26687; -.
DR KEGG; hsa:26687; -.
DR MANE-Select; ENST00000641792.2; ENSP00000493111.1; NM_001317107.2; NP_001304036.1.
DR CTD; 26687; -.
DR GeneCards; OR4E1; -.
DR HGNC; HGNC:8296; OR4E1.
DR HPA; ENSG00000276240; Not detected.
DR neXtProt; NX_P0C645; -.
DR OpenTargets; ENSG00000276240; -.
DR VEuPathDB; HostDB:ENSG00000276240; -.
DR GeneTree; ENSGT00940000163058; -.
DR InParanoid; P0C645; -.
DR OMA; KMLRDTW; -.
DR OrthoDB; 941639at2759; -.
DR PhylomeDB; P0C645; -.
DR PathwayCommons; P0C645; -.
DR Reactome; R-HSA-9752946; Expression and translocation of olfactory receptors.
DR GenomeRNAi; 26687; -.
DR Pharos; P0C645; Tdark.
DR PRO; PR:P0C645; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; P0C645; protein.
DR Bgee; ENSG00000276240; Expressed in monocyte and 6 other tissues.
DR ExpressionAtlas; P0C645; baseline and differential.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
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:0005549; F:odorant binding; IBA:GO_Central.
DR GO; GO:0004984; F:olfactory receptor activity; IBA:GO_Central.
DR GO; GO:0050911; P:detection of chemical stimulus involved in sensory perception of smell; IBA:GO_Central.
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 SMART; SM01381; 7TM_GPCR_Srsx; 1.
DR PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
PE 3: Inferred from homology;
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..315
FT /note="Olfactory receptor 4E1"
FT /id="PRO_0000315824"
FT TOPO_DOM 1..33
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 34..54
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 55..61
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..82
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 83..101
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 102..122
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 123..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..208
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 209..229
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 230..240
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 241..261
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 262..272
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 273..293
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 294..315
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 8
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 101..183
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00521"
FT VARIANT 199
FT /note="I -> L (in dbSNP:rs10143044)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_080171"
FT VARIANT 238
FT /note="R -> W (in dbSNP:rs970025)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_080172"
FT VARIANT 274
FT /note="V -> A (in dbSNP:rs7144135)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_080173"
SQ SEQUENCE 315 AA; 35737 MW; E5068A662A804A21 CRC64;
MEEAILLNQT SLVTYFRLRG LSVNHKARIA MFSMFLIFYV LTLIGNVLIV ITIIYDHRLH
TPMYFFLSNL SFIDVCHSTV TVPKMLRDVW SEEKLISFDA CVTQMFFLHL FACTEIFLLT
VMAYDRYVAI CKPLQYMIVM NWKVCVLLAV ALWTGGTIHS IALTSLTIKL PYCGPDEIDN
FFCDVPQVIK LACIDTHVIE ILIVSNSGLI SVVCFVVLVV SYAVILVSLR QQISKGKRKA
LSTCAAHLTV VTLFLGHCIF IYSRPSTSLP EDKVVSVFFT AVTPLLNPII YTLRNEEMKS
ALNKLVGRKE RKEEK
