Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone rec... See more...

Aliases for OR4E1 Gene

Aliases for OR4E1 Gene

  • Olfactory Receptor Family 4 Subfamily E Member 1 2 3 5
  • Olfactory Receptor, Family 4, Subfamily E, Member 1 Pseudogene 2 3
  • Olfactory Receptor OR14-43 3 4
  • Olfactory Receptor 4E1 3 4
  • OR4E1P 3 4
  • Olfactory Receptor, Family 4, Subfamily E, Member 1 (Gene/Pseudogene) 2
  • Olfactory Receptor Family 4 Subfamily E Member 1 (Gene/Pseudogene) 2
  • OR4E1 5

External Ids for OR4E1 Gene

Previous HGNC Symbols for OR4E1 Gene

  • OR4E1P

Previous GeneCards Identifiers for OR4E1 Gene

  • GC14M021207
  • GC14M022139
  • GC14M022141

Summaries for OR4E1 Gene

Entrez Gene Summary for OR4E1 Gene

  • Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

GeneCards Summary for OR4E1 Gene

OR4E1 (Olfactory Receptor Family 4 Subfamily E Member 1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Olfactory transduction. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR4E2.

UniProtKB/Swiss-Prot Summary for OR4E1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR4E1 Gene

Genomics for OR4E1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR4E1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J021668 Enhancer 0.6 Ensembl ENCODE 0.4 +5.2 5217 0.4 FOXA2 ZEB2 ZNF629 ZBTB17 OR10G2 METTL17 lnc-OR4E1-4 OR4E1 OR4E2 TRA
GH14J021703 Enhancer 0.8 VISTA Ensembl 0.3 -30.2 -30245 2 FEZF1 FOXA2 ZNF217 PKNOX1 MYNN MTA2 WT1 OR10G3 ENSG00000256350 HSALNG0099908 TRAV2 OR4E1 TRA
GH14J021711 Enhancer 0.6 ENCODE 0.3 -37.8 -37755 0.2 CEBPA TRIM22 CTCF FOXA2 RAD21 FOXP1 MIER2 ELF3 CEBPG ARID3A HSALNG0099908 LOC107984650 TRAV2 lnc-OR4E2-1 OR4E1 TRA
GH14J021712 Enhancer 0.5 ENCODE 0.3 -38.4 -38395 0.2 JUND ATF2 JUN CREB1 ATF1 ZNF629 ATF7 CTCF HSALNG0099908 LOC107984650 TRAV2 lnc-OR4E2-1 OR4E1 TRA
GH14J021680 Enhancer 0.3 Ensembl 0.4 -6.5 -6483 0.2 FOS OR4E1 piR-31534-164 TRAV2 TRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR4E1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR4E1

Genomic Locations for OR4E1 Gene

Latest Assembly
chr14:21,667,886-21,673,818
(GRCh38/hg38)
Size:
5,933 bases
Orientation:
Minus strand

Previous Assembly
chr14:22,136,100-22,142,033
(GRCh37/hg19 by Entrez Gene)
Size:
5,934 bases
Orientation:
Minus strand

Genomic View for OR4E1 Gene

Genes around OR4E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR4E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR4E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR4E1 Gene

Proteins for OR4E1 Gene

  • Protein details for OR4E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C645-OR4E1_HUMAN
    Recommended name:
    Olfactory receptor 4E1
    Protein Accession:
    P0C645
    Secondary Accessions:
    • A0A126GWU0

    Protein attributes for OR4E1 Gene

    Size:
    315 amino acids
    Molecular mass:
    35737 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR4E1 Gene

Post-translational modifications for OR4E1 Gene

  • Glycosylation at Asn8

Other Protein References for OR4E1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OR4E1 Gene

Domains & Families for OR4E1 Gene

Gene Families for OR4E1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for OR4E1 Gene

Suggested Antigen Peptide Sequences for OR4E1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR14-43 (OR4E1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0C645

UniProtKB/Swiss-Prot:

OR4E1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with OR4E1: view

Function for OR4E1 Gene

Molecular function for OR4E1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR4E1 Gene

Gene Ontology (GO) - Molecular Function for OR4E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity IEA,IBA 21873635
GO:0005549 odorant binding IBA 21873635
genes like me logo Genes that share ontologies with OR4E1: view

Phenotypes for OR4E1 Gene

genes like me logo Genes that share phenotypes with OR4E1: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR4E1 Gene

Localization for OR4E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR4E1 Gene

Cell membrane. Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for OR4E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with OR4E1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for OR4E1 Gene

Pathways & Interactions for OR4E1 Gene

genes like me logo Genes that share pathways with OR4E1: view

Pathways by source for OR4E1 Gene

Interacting Proteins for OR4E1 Gene

Gene Ontology (GO) - Biological Process for OR4E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007608 sensory perception of smell IEA --
GO:0050896 response to stimulus IEA --
GO:0050911 detection of chemical stimulus involved in sensory perception of smell IEA,IBA 21873635
genes like me logo Genes that share ontologies with OR4E1: view

No data available for SIGNOR curated interactions for OR4E1 Gene

Drugs & Compounds for OR4E1 Gene

No Compound Related Data Available

Transcripts for OR4E1 Gene

mRNA/cDNA for OR4E1 Gene

1 REFSEQ mRNAs :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for OR4E1 Gene

No ASD Table

Relevant External Links for OR4E1 Gene

GeneLoc Exon Structure for
OR4E1

Expression for OR4E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR4E1 Gene

genes like me logo Genes that share expression patterns with OR4E1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR4E1 Gene

Orthologs for OR4E1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for OR4E1 Gene

Organism Taxonomy Gene Similarity Type Details
Mouse
(Mus musculus)
Mammalia Or4e1 45 Olfr1508
  • chr14:52,463,078-52,464,007
Or4e5 45 Olfr1507
  • chr14:52,490,024-52,490,962
Species where no ortholog for OR4E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for OR4E1 Gene

ENSEMBL:
Gene Tree for OR4E1 (if available)
TreeFam:
Gene Tree for OR4E1 (if available)
Alliance of Genome Resources:
Additional Orthologs for OR4E1

Paralogs for OR4E1 Gene

(451) SIMAP similar genes for OR4E1 Gene using alignment to 1 proteins:

  • OR4E1_HUMAN
genes like me logo Genes that share paralogs with OR4E1: view

Variants for OR4E1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for OR4E1 Gene

OR4E1_HUMAN-P0C645
There at least 2 alleles for OR4E1. A non-functional allele results from a polymorphism at position 197 (dbSNP rs199890040), which leads to a frameshift, premature truncation of the coding region and hence pseudogenization. The presence of various combinations of functional (olfactory receptors) and non-functional (olfactory receptor segregating pseudogenes) alleles may underlie differences in olfactory sensitivity between individuals (hyperosmia, hyposmia or even anosmia).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR4E1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs10143044 -- p.Ile199Leu
rs7144135 -- p.Val274Ala
rs970025 -- p.Arg238Trp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR4E1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Additional Variant Information for OR4E1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR4E1
Leiden Open Variation Database (LOVD)
OR4E1

SNP Genotyping and Copy Number Assays for research

No data available for Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for OR4E1 Gene

Disorders for OR4E1 Gene

Additional Disease Information for OR4E1

No disorders were found for OR4E1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OR4E1 Gene

Publications for OR4E1 Gene

  1. Genetic elucidation of human hyperosmia to isovaleric acid. (PMID: 17973576) Menashe I … Lancet D (PLoS biology 2007) 3 4
  2. The human olfactory receptor gene family. (PMID: 14983052) Malnic B … Buck LB (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  3. DEFOG: a practical scheme for deciphering families of genes. (PMID: 12213199) Fuchs T … Shamir R (Genomics 2002) 3 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 4

Products for OR4E1 Gene

Sources for OR4E1 Gene