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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OR5I1
olfactory receptor family 5 subfamily I member 1
Chromosome 11 Β· 11q12.1
NCBI Gene: 10798Ensembl: ENSG00000167825.3HGNC: HGNC:8347UniProt: A0A126GVE5
6PubMed Papers
14Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
olfactory receptor activityplasma membraneG protein-coupled receptor signaling pathwaysensory perception of smellperipheral vascular diseaseadolescent idiopathic scoliosisIncreased blood pressurehypertension
✦AI Summary

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.

Sources cited
1
OR5I1 shows evidence of positive selection in humans with derived alleles at high frequencies; nonsynonymous polymorphisms may alter odorant binding properties
PMID: 17981927
2
OR5I1 is upregulated in human spermatogonial stem cells, suggesting a role in testicular development
PMID: 40694278
3
OR5I1 functions as a tumor suppressor influencing hepatoblastoma cell growth
PMID: 24912477
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜14
peripheral vascular diseaseOpen Targets
0.05Suggestive
adolescent idiopathic scoliosisOpen Targets
0.04Suggestive
Increased blood pressureOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
lupus nephritisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Down syndromeOpen Targets
0.00Suggestive
lobular neoplasiaOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
glaucomaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
nervous system diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
OR8U9Shared pathway100%OR8U8Shared pathway100%OR14J1Shared pathway100%OR9K2Shared pathway100%OR5B3Shared pathway100%OR5K4Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
OR5I1OR8U9OR8U8OR14J1OR9K2OR5B3OR5K4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q13606
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.94LoF Tolerant
pLIβ“˜
0.11Tolerant
Observed/Expected LoF3.81 [0.39–1.94]
RankingsWhere OR5I1 stands among ~20K protein-coding genes
  • #18,166of 20,598
    Most Researched6
  • #17,575of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedOR5I1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Signatures of selection in the human olfactory receptor OR5I1 gene.
PMID: 17981927
Mol Biol Evol Β· 2008
1.00
2
Microarray and Single-Cell RNA Sequencing Reveals G-Protein Gene Expression Signatures of Spermatogonia Stem Cell.
PMID: 40694278
Stem Cell Rev Rep Β· 2025
0.67
3
Exome sequencing of hepatoblastoma reveals novel mutations and cancer genes in the Wnt pathway and ubiquitin ligase complex.
PMID: 24912477
Hepatology Β· 2014
0.33