3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
6PubMed Papers
14Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
olfactory receptor activityplasma membraneG protein-coupled receptor signaling pathwaysensory perception of smellperipheral vascular diseaseadolescent idiopathic scoliosisIncreased blood pressurehypertension
OR5I1 is an olfactory receptor that functions as a G protein-coupled receptor involved in odorant sensing and sensory perception of smell 1. The gene encodes a plasma membrane protein that participates in signal transduction pathways characteristic of the olfactory receptor family [GO annotations]. OR5I1 exhibits evidence of positive selection in human populations, with derived alleles segregating at relatively high frequencies across diverse populations 1. Molecular structural analysis suggests that nonsynonymous polymorphisms in OR5I1 may alter its functional binding properties for odorant ligands 1. Beyond olfactory function, OR5I1 is upregulated in human spermatogonial stem cells, suggesting potential roles in testicular development and spermatogenesis 2. Notably, OR5I1 functions as a tumor suppressor in hepatoblastoma, where it influences hepatoblastoma cell growth 3. These findings indicate OR5I1 has evolved under adaptive pressure and possesses pleiotropic functions extending beyond classical olfactory sensing to reproductive development and cancer biology.
1
OR5I1 shows evidence of positive selection in humans with derived alleles at high frequencies; nonsynonymous polymorphisms may alter odorant binding properties
PMID: 179819272
OR5I1 is upregulated in human spermatogonial stem cells, suggesting a role in testicular development
PMID: 406942783
OR5I1 functions as a tumor suppressor influencing hepatoblastoma cell growth
PMID: 24912477β Limited data available β This gene has 3 indexed publications. Summary and analysis may be incomplete.
peripheral vascular diseaseOpen Targets
adolescent idiopathic scoliosisOpen Targets
Increased blood pressureOpen Targets
systemic lupus erythematosusOpen Targets
lupus nephritisOpen Targets
Down syndromeOpen Targets
lobular neoplasiaOpen Targets
neuroblastomaOpen Targets
posterior cortical atrophyOpen Targets
acute lymphoblastic leukemiaOpen Targets
nervous system diseaseOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.