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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OR1E1
olfactory receptor family 1 subfamily E member 1
Chromosome 17 Β· 17p13.3
NCBI Gene: 8387Ensembl: ENSG00000180016.2HGNC: HGNC:8189UniProt: P30953
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
olfactory receptor activityplasma membranesignal transductionsensory perception of smellLynch syndromeLynch syndrome 2colorectal cancer, susceptibility to, 3colorectal cancer, hereditary nonpolyposis, type 6
✦AI Summary

Based on limited published evidence, OR1E1 is an olfactory receptor family protein with established odorant receptor activity localized to the plasma membrane. It functions in signal transduction and sensory perception of smell according to GO annotations. OR1E1 was identified as downregulated in the frontal cortex of Parkinson disease patients at premotor and parkinsonian stages 1, suggesting potential extraneuronal roles beyond classical olfaction. The protein was also detected in breast cancer plasma proteomics analysis 2, though its functional significance in cancer remains unclear. Current evidence indicates OR1E1 may have novel physiologic functions in the cerebral cortex beyond traditional olfactory detection.

Sources cited
1
OR1E1 is downregulated in frontal cortex of Parkinson disease patients and may have novel physiologic functions in cerebral cortex
PMID: 23656994
2
OR1E1 peptides detected in breast cancer plasma proteomics study with altered abundance compared to controls
PMID: 31889940
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Lynch syndromeOpen Targets
0.08Suggestive
colorectal cancer, susceptibility to, 3Open Targets
0.06Suggestive
Lynch syndrome 2Open Targets
0.06Suggestive
colorectal cancer, hereditary nonpolyposis, type 6Open Targets
0.06Suggestive
inflammatory bowel diseaseOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
Meckel's diverticulumOpen Targets
0.06Suggestive
Familial adenomatous polyposisOpen Targets
0.05Suggestive
familial adenomatous polyposis 2Open Targets
0.05Suggestive
AXIN2-related attenuated familial adenomatous polyposisOpen Targets
0.05Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.05Suggestive
hereditary mixed polyposis syndromeOpen Targets
0.05Suggestive
inflammatory bowel disease 13Open Targets
0.05Suggestive
inflammatory bowel disease 19Open Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cellsOpen Targets
0.04Suggestive
Genetic intractable diarrhea of infancyOpen Targets
0.04Suggestive
Lynch syndrome 8Open Targets
0.04Suggestive
IntussusceptionOpen Targets
0.04Suggestive
46,XX gonadal dysgenesisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
OR7A5Shared pathway100%OR1D4Shared pathway67%OR8U9Shared pathway67%OR8U8Shared pathway67%OR14J1Shared pathway67%OR9K2Shared pathway67%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
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OR1E1OR7A5OR1D4OR8U9OR8U8OR14J1OR9K2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt P30953
View on AlphaFold β†—
RankingsWhere OR1E1 stands among ~20K protein-coding genes
  • #17,121of 20,598
    Most Researched10
Genes detectedOR1E1
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
The plasma peptides of breast versus ovarian cancer.
PMID: 31889940
Clin Proteomics Β· 2019
1.00
2
Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain.
PMID: 23656994
J Neuropathol Exp Neurol Β· 2013
0.50