2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
olfactory receptor activityplasma membranesignal transductionsensory perception of smellLynch syndromeLynch syndrome 2colorectal cancer, susceptibility to, 3colorectal cancer, hereditary nonpolyposis, type 6
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.
1
OR1E1 is downregulated in frontal cortex of Parkinson disease patients and may have novel physiologic functions in cerebral cortex
PMID: 236569942
OR1E1 peptides detected in breast cancer plasma proteomics study with altered abundance compared to controls
PMID: 31889940β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
Lynch syndromeOpen Targets
colorectal cancer, susceptibility to, 3Open Targets
Lynch syndrome 2Open Targets
colorectal cancer, hereditary nonpolyposis, type 6Open Targets
inflammatory bowel diseaseOpen Targets
Testicular regression syndromeOpen Targets
Meckel's diverticulumOpen Targets
Familial adenomatous polyposisOpen Targets
familial adenomatous polyposis 2Open Targets
AXIN2-related attenuated familial adenomatous polyposisOpen Targets
46,XX ovotesticular disorder of sex developmentOpen Targets
hereditary mixed polyposis syndromeOpen Targets
inflammatory bowel disease 13Open Targets
inflammatory bowel disease 19Open Targets
46,XY complete gonadal dysgenesisOpen Targets
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cellsOpen Targets
Genetic intractable diarrhea of infancyOpen Targets
Lynch syndrome 8Open Targets
IntussusceptionOpen Targets
46,XX gonadal dysgenesisOpen Targets
No pathogenic variants reported on ClinVar for this gene.