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 OR4D1 Gene

Aliases for OR4D1 Gene

  • Olfactory Receptor Family 4 Subfamily D Member 1 2 3 5
  • Olfactory Receptor TPCR16 3 4
  • Olfactory Receptor 4D1 3 4
  • Olfactory Receptor 4D3 3 4
  • TPCR16 2 3
  • OR4D3 3 4
  • Olfactory Receptor, Family 4, Subfamily D, Member 4 Pseudogene 3
  • Olfactory Receptor, Family 4, Subfamily D, Member 1 2
  • Olfactory Receptor, Family 4, Subfamily D, Member 3 3
  • Olfactory Receptor OR17-23 Pseudogene 3
  • Seven Transmembrane Helix Receptor 3
  • OR17-23 3
  • OR4D4P 3
  • OR4D1 5

External Ids for OR4D1 Gene

Previous HGNC Symbols for OR4D1 Gene

  • OR4D3

Previous GeneCards Identifiers for OR4D1 Gene

  • GC17P055976
  • GC17M058713
  • GC17P056539
  • GC17P056707
  • GC17P053552
  • GC17P053588
  • GC17P056232

Summaries for OR4D1 Gene

Entrez Gene Summary for OR4D1 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 OR4D1 Gene

OR4D1 (Olfactory Receptor Family 4 Subfamily D Member 1) is a Protein Coding gene. Diseases associated with OR4D1 include Donnai-Barrow Syndrome. 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 OR4D2.

UniProtKB/Swiss-Prot Summary for OR4D1 Gene

Gene Wiki entry for OR4D1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR4D1 Gene

Genomics for OR4D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR4D1 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
GH17J057660 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.7 -484.3 -484264 7.5 ZNF600 IKZF1 JUND MBD2 SIX4 KLF9 SP2 ZNF316 DDX20 SP1 HSALNG0117643 MSX2P1 OR4D1 MSI2 DYNLL2 HSALNG0117644 CCDC182
GH17J057832 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 -315.2 -315152 2.2 BCLAF1 ZNF600 ZNF654 SSRP1 CEBPA ZIC2 ZNF217 CTCF REST DEK HSALNG0117660 lnc-MSI2-5 CCDC182 DYNLL2 AKAP1 SRSF1 CUEDC1 OR4D1 MSX2P1 ENSG00000265542
GH17J058374 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.4 +231.8 231807 10.8 NCOR1 IKZF1 SSRP1 ZMYM3 KLF9 CEBPA YY1 ZNF217 MXD4 KLF11 TRIM37 RAD51C RNF43 SRSF1 MKS1 SUPT4H1 HSF5 LPO EPX MSX2P1
GH17J058183 Enhancer 0.9 Ensembl ENCODE 11.5 +36.6 36617 3.2 MYC IKZF1 ZNF600 JUND ZNF592 REST MNT MAFF SP2 ZNF316 MKS1 SRSF1 MSX2P1 OR4D1 LPO SUPT4H1 TSPOAP1 EPX OR4D2 HSALNG0117689
GH17J057834 Enhancer 0.8 ENCODE dbSUPER 9.8 -313.8 -313809 0.2 ZNF217 ZBTB7B HES1 ELF1 NONO SIN3A CTCF DPF2 NFIB CREB1 HSALNG0117660 lnc-MSI2-5 CCDC182 DYNLL2 AKAP1 SRSF1 CUEDC1 OR4D1 MSX2P1 piR-32861-031
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR4D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR4D1

Top Transcription factor binding sites by QIAGEN in the OR4D1 gene promoter:
  • AhR
  • Arnt
  • Brachyury
  • GATA-1
  • HEN1
  • p53
  • Spz1
  • STAT5A
  • STAT5B

Genomic Locations for OR4D1 Gene

Latest Assembly
chr17:58,148,384-58,159,585
(GRCh38/hg38)
Size:
11,202 bases
Orientation:
Plus strand

Previous Assembly
chr17:56,225,745-56,236,946
(GRCh37/hg19 by Entrez Gene)
Size:
11,202 bases
Orientation:
Plus strand

chr17:56,232,494-56,233,517
(GRCh37/hg19 by Ensembl)
Size:
1,024 bases
Orientation:
Plus strand

Genomic View for OR4D1 Gene

Genes around OR4D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR4D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR4D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR4D1 Gene

Proteins for OR4D1 Gene

  • Protein details for OR4D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15615-OR4D1_HUMAN
    Recommended name:
    Olfactory receptor 4D1
    Protein Accession:
    Q15615
    Secondary Accessions:
    • B2RN14
    • Q8NGB1
    • Q96R76

    Protein attributes for OR4D1 Gene

    Size:
    310 amino acids
    Molecular mass:
    35240 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR4D1 Gene

Post-translational modifications for OR4D1 Gene

  • Glycosylation at Asn5
  • Modification sites at PhosphoSitePlus

Other Protein References for OR4D1 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR4D1 Gene

Domains & Families for OR4D1 Gene

Gene Families for OR4D1 Gene

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

Protein Domains for OR4D1 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR4D1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor TPCR16 (OR4D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15615

UniProtKB/Swiss-Prot:

OR4D1_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 OR4D1: view

Function for OR4D1 Gene

Molecular function for OR4D1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.
GENATLAS Biochemistry:
olfactory receptor,family 4,subfamily D,member 1,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for OR4D1 Gene

Gene Ontology (GO) - Molecular Function for OR4D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity NAS 9119360
genes like me logo Genes that share ontologies with OR4D1: view
genes like me logo Genes that share phenotypes with OR4D1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR4D1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR4D1 Gene

Localization for OR4D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR4D1 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 OR4D1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR4D1 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 9119360
genes like me logo Genes that share ontologies with OR4D1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR4D1 Gene

Pathways & Interactions for OR4D1 Gene

genes like me logo Genes that share pathways with OR4D1: view

Pathways by source for OR4D1 Gene

Interacting Proteins for OR4D1 Gene

Gene Ontology (GO) - Biological Process for OR4D1 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 9119360
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 OR4D1: view

No data available for SIGNOR curated interactions for OR4D1 Gene

Drugs & Compounds for OR4D1 Gene

No Compound Related Data Available

Transcripts for OR4D1 Gene

mRNA/cDNA for OR4D1 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 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 OR4D1

Alternative Splicing Database (ASD) splice patterns (SP) for OR4D1 Gene

No ASD Table

Relevant External Links for OR4D1 Gene

GeneLoc Exon Structure for
OR4D1

Expression for OR4D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR4D1 Gene

Protein differential expression in normal tissues from HIPED for OR4D1 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OR4D1 Gene



Protein tissue co-expression partners for OR4D1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR4D1

SOURCE GeneReport for Unigene cluster for OR4D1 Gene:

Hs.531188
genes like me logo Genes that share expression patterns with OR4D1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR4D1 Gene

Orthologs for OR4D1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OR4D1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OR4D1 30
  • 100 (a)
OneToOne
LOC468418 29
  • 99.46 (n)
Dog
(Canis familiaris)
Mammalia OR4D1 29 30
  • 87.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC788693 29
  • 86.77 (n)
-- 30
  • 85 (a)
OneToMany
-- 30
  • 83 (a)
OneToMany
-- 30
  • 83 (a)
OneToMany
-- 30
  • 79 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Or4d1 45 Olfr464 29 16 30
  • 84.3 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 81 (a)
ManyToMany
-- 30
  • 76 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 70 (a)
ManyToMany
-- 30
  • 69 (a)
ManyToMany
-- 30
  • 68 (a)
ManyToMany
-- 30
  • 68 (a)
ManyToMany
-- 30
  • 65 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 56 (a)
ManyToMany
-- 30
  • 53 (a)
ManyToMany
Species where no ortholog for OR4D1 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)
  • 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)
  • 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 OR4D1 Gene

ENSEMBL:
Gene Tree for OR4D1 (if available)
TreeFam:
Gene Tree for OR4D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR4D1: view image
Alliance of Genome Resources:
Additional Orthologs for OR4D1

Paralogs for OR4D1 Gene

(443) SIMAP similar genes for OR4D1 Gene using alignment to 1 proteins:

  • OR4D1_HUMAN
genes like me logo Genes that share paralogs with OR4D1: view

Variants for OR4D1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR4D1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12602205 -- p.Arg54Gln
rs7218964 -- p.Leu174Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR4D1 Gene

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

Variation tolerance for OR4D1 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.67; 86.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR4D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR4D1
Leiden Open Variation Database (LOVD)
OR4D1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for OR4D1 Gene

Disorders for OR4D1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR4D1 Gene - From: COP

Disorder Aliases PubMed IDs
donnai-barrow syndrome
  • faciooculoacousticorenal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search OR4D1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OR4D1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OR4D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR4D1 Gene

Publications for OR4D1 Gene

  1. Specific repertoire of olfactory receptor genes in the male germ cells of several mammalian species. (PMID: 9119360) Vanderhaeghen P … Parmentier M (Genomics 1997) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. DEFOG: a practical scheme for deciphering families of genes. (PMID: 12213199) Fuchs T … Shamir R (Genomics 2002) 3 4
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons. (PMID: 32126975) Barnes IHA … Frankish A (BMC genomics 2020) 3

Products for OR4D1 Gene

Sources for OR4D1 Gene