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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OR1D4
olfactory receptor family 1 subfamily D member 4
Chromosome 17 · 17p13.3
NCBI Gene: 653166
7PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence
olfactory receptor activitysignal transductionplasma membraneG protein-coupled receptor activity
✦AI Summary

OR1D4 is an olfactory receptor belonging to the OR1D subfamily, functioning as a seven-transmembrane G-protein coupled receptor (GPCR) involved in olfactory signal transduction 1. As a member of the human olfactory receptor family, OR1D4 is primarily expressed in the olfactory epithelium and exhibits ectopic expression in other tissues 1. The receptor demonstrates high sequence identity (>80%) with related OR1D subfamily members OR1D2 and OR1D5, sharing characteristic structural features including transmembrane domains that present technical challenges for proteomics-based identification 21. OR1D4 has documented protein-level evidence based on protein interaction data 1. Clinically, OR1D4 has been identified as involved in cancer-associated structural rearrangements. Recurrent intergenic gene fusions involving OR1D4 have been detected in breast cancer, where fusion-mediated regulatory repositioning may dysregulate neighboring genes 3. These findings suggest OR1D4's participation in cancer genomic instability, though the specific oncogenic mechanism requires further investigation. The olfactory receptor's role extends beyond sensory perception to multiple signaling pathways 1, indicating broader biological functions beyond its canonical role in smell detection.

Sources cited
1
OR1D4 is a GPCR with protein-level evidence based on protein interaction data; ORs are primarily expressed in olfactory epithelium with ectopic expression in other tissues; transmembrane domains present MS identification challenges
PMID: 31046287
2
OR1D4 is a full-length olfactory receptor in the OR1D subfamily with >80% sequence identity to OR1D2 and OR1D5, sharing 108 base pair mismatches among subfamily members
PMID: 20826948
3
OR1D4 is involved in recurrent intergenic fusions in breast cancer, demonstrating dysregulation through fusion-mediated regulatory repositioning
PMID: 32631391
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OR3A2Shared pathway100%OR1E2Shared pathway100%OR7C2Shared pathway100%OR1L3Shared pathway100%OR7G1Shared pathway100%OR1M1Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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OR1D4OR3A2OR1E2OR7C2OR1L3OR7G1OR1M1
PROTEIN STRUCTURE
?
No structure data available
Structures require a reviewed Swiss-Prot entry.
RankingsWhere OR1D4 stands among ~20K protein-coding genes
  • #17,895of 20,598
    Most Researched7
Genes detectedOR1D4
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Dysregulation of cancer genes by recurrent intergenic fusions.
PMID: 32631391
Genome Biol · 2020
1.00
2
In Silico Peptide Repertoire of Human Olfactory Receptor Proteomes on High-Stringency Mass Spectrometry.
PMID: 31046287
J Proteome Res · 2019
0.67
3
Designing exons for human olfactory receptor gene subfamilies using a mathematical paradigm.
PMID: 20826948
J Biosci · 2010
0.33