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 OR52D1 Gene

Aliases for OR52D1 Gene

  • Olfactory Receptor Family 52 Subfamily D Member 1 2 3 5
  • Odorant Receptor HOR5'Beta14 3 4
  • Olfactory Receptor OR11-43 3 4
  • Olfactory Receptor 52D1 3 4
  • Olfactory Receptor Family 52 Subfamily D Member 1 (Gene/Pseudogene) 2
  • Olfactory Receptor, Family 52, Subfamily D, Member 1 2
  • HOR 5'Beta14 3
  • OR11-43 3
  • OR52D1 5

External Ids for OR52D1 Gene

Previous GeneCards Identifiers for OR52D1 Gene

  • GC11U990502
  • GC11P005475
  • GC11P005466

Summaries for OR52D1 Gene

Entrez Gene Summary for OR52D1 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 OR52D1 Gene

OR52D1 (Olfactory Receptor Family 52 Subfamily D 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 OR52E8.

UniProtKB/Swiss-Prot Summary for OR52D1 Gene

Gene Wiki entry for OR52D1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR52D1 Gene

Genomics for OR52D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR52D1 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
GH11J005683 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.5 +196.1 196101 3.2 BCLAF1 SP1 ZNF207 MYC NCOR1 ZNF600 IKZF1 JUND POLR2A ATF3 TRIM5 piR-39099-048 piR-31470-069 piR-58297-068 TRIM22 HBG2 TRIM6 OR52D1 OR52N3P ENSG00000239920
GH11J005688 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 9 +202.1 202057 4.5 NCOR1 POLR2A REST BHLHE40 TAL1 EBF1 TAF1 ELF1 ZNF24 FOXK2 TRIM22 TRIM5 HSALNG0082385 OR52N1 TRIM6 OR52D1 HBG2 OR52N4
GH11J005550 Enhancer 0.7 Ensembl ENCODE 10.1 +62.2 62216 1.4 JUND BHLHE40 DPF2 ARID1B SMARCE1 ATF3 FOS MTA2 SMARCA4 OR52H2P lnc-OR52H1-2 HBE1 HBG2 OR51B5 TRIM6 OR52D1 OR51I2 OLFM5P UBQLNL
GH11J005565 Enhancer 0.6 Ensembl 10.1 +75.7 75716 0.4 MYC ZNF592 BHLHE40 ZNF316 RAD51 EP400 ATF4 L3MBTL2 CEBPB ATF3 TRIM6 OR52D1 OR52E4 OR51I2 OR52T1P HSALNG0082372 OR52B5P OR52B6 OR52H1 ENSG00000239920
GH11J005564 Enhancer 0.5 Ensembl 10.1 +76.2 76216 0.2 GABPA ZNF316 SPI1 EP400 CEBPB GABPB1 CEBPG TRIM6 OR52D1 OR52E4 OR51I2 OR52T1P HSALNG0082372 OR52B5P OR52B6 OR52H1 ENSG00000239920
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR52D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR52D1

Top Transcription factor binding sites by QIAGEN in the OR52D1 gene promoter:
  • Bach1
  • E4BP4
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-4alpha1
  • Ik-2
  • Lmo2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for OR52D1 Gene

Latest Assembly
chr11:5,488,685-5,489,749
(GRCh38/hg38)
Size:
1,065 bases
Orientation:
Plus strand

Previous Assembly
chr11:5,509,915-5,510,979
(GRCh37/hg19 by Entrez Gene)
Size:
1,065 bases
Orientation:
Plus strand

chr11:5,509,915-5,510,979
(GRCh37/hg19 by Ensembl)
Size:
1,065 bases
Orientation:
Plus strand

Genomic View for OR52D1 Gene

Genes around OR52D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR52D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR52D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR52D1 Gene

Proteins for OR52D1 Gene

  • Protein details for OR52D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H346-O52D1_HUMAN
    Recommended name:
    Olfactory receptor 52D1
    Protein Accession:
    Q9H346
    Secondary Accessions:
    • B9EGY9
    • Q6IFI6

    Protein attributes for OR52D1 Gene

    Size:
    318 amino acids
    Molecular mass:
    35122 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR52D1 Gene

Post-translational modifications for OR52D1 Gene

  • Glycosylation at Asn5
  • Modification sites at PhosphoSitePlus

Other Protein References for OR52D1 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR52D1 Gene

Domains & Families for OR52D1 Gene

Gene Families for OR52D1 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for OR52D1 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR52D1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR11-43 (O52D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H346

UniProtKB/Swiss-Prot:

O52D1_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 OR52D1: view

Function for OR52D1 Gene

Molecular function for OR52D1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR52D1 Gene

Gene Ontology (GO) - Molecular Function for OR52D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity NAS 11121057
genes like me logo Genes that share ontologies with OR52D1: view
genes like me logo Genes that share phenotypes with OR52D1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR52D1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR52D1 Gene

Localization for OR52D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR52D1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OR52D1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR52D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 11121057
genes like me logo Genes that share ontologies with OR52D1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR52D1 Gene

Pathways & Interactions for OR52D1 Gene

genes like me logo Genes that share pathways with OR52D1: view

Pathways by source for OR52D1 Gene

Interacting Proteins for OR52D1 Gene

Gene Ontology (GO) - Biological Process for OR52D1 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 NAS 11121057
GO:0050896 response to stimulus IEA --
GO:0050911 detection of chemical stimulus involved in sensory perception of smell IEA --
genes like me logo Genes that share ontologies with OR52D1: view

No data available for SIGNOR curated interactions for OR52D1 Gene

Drugs & Compounds for OR52D1 Gene

No Compound Related Data Available

Transcripts for OR52D1 Gene

mRNA/cDNA for OR52D1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR52D1

Alternative Splicing Database (ASD) splice patterns (SP) for OR52D1 Gene

No ASD Table

Relevant External Links for OR52D1 Gene

GeneLoc Exon Structure for
OR52D1

Expression for OR52D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR52D1 Gene

mRNA differential expression in normal tissues according to GTEx for OR52D1 Gene

This gene is overexpressed in Testis (x33.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR52D1

SOURCE GeneReport for Unigene cluster for OR52D1 Gene:

Hs.553734
genes like me logo Genes that share expression patterns with OR52D1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 OR52D1 Gene

Orthologs for OR52D1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR52D1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC466383 29
  • 99.27 (n)
OR52D1 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 89 (a)
OneToMany
-- 30
  • 87 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 87 (a)
OneToMany
OR52D1 29
  • 85.95 (n)
-- 30
  • 85 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Or52d1 45 Olfr646 29 16 30
  • 85.61 (n)
OneToOne
Or52d3 45 Olfr653
  • chr7:104,579,648-104,580,598
Rat
(Rattus norvegicus)
Mammalia Olr148 29
  • 85.3 (n)
Oppossum
(Monodelphis domestica)
Mammalia OR52D1 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OR52D1 30
  • 69 (a)
OneToOne
Species where no ortholog for OR52D1 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 OR52D1 Gene

ENSEMBL:
Gene Tree for OR52D1 (if available)
TreeFam:
Gene Tree for OR52D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR52D1: view image
Alliance of Genome Resources:
Additional Orthologs for OR52D1

Paralogs for OR52D1 Gene

(428) SIMAP similar genes for OR52D1 Gene using alignment to 1 proteins:

  • O52D1_HUMAN

Pseudogenes.org Pseudogenes for OR52D1 Gene

genes like me logo Genes that share paralogs with OR52D1: view

Variants for OR52D1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR52D1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11037758 -- p.Arg304Trp
rs7101919 -- p.Ile251Thr
rs7924754 -- p.Asp213Glu
rs7935144 -- p.Arg154Cys
rs7950082 -- p.Tyr221Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR52D1 Gene

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

Structural Variations from Database of Genomic Variants (DGV) for OR52D1 Gene

Variant ID Type Subtype PubMed ID
dgv1043n100 CNV loss 25217958
esv3625230 CNV loss 21293372
esv3625232 CNV loss 21293372
nsv1046068 CNV gain 25217958
nsv1048608 CNV gain 25217958
nsv553240 CNV loss 21841781
nsv553241 CNV gain 21841781
nsv832057 CNV loss 17160897

Variation tolerance for OR52D1 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.64; 91.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR52D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR52D1
Leiden Open Variation Database (LOVD)
OR52D1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR52D1 Gene

Disorders for OR52D1 Gene

Additional Disease Information for OR52D1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for OR52D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OR52D1 Gene

Publications for OR52D1 Gene

  1. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 40
  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. Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters. (PMID: 11121057) Bulger M … Hardison R (Proceedings of the National Academy of Sciences of the United States of America 2000) 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 status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

Products for OR52D1 Gene

Sources for OR52D1 Gene