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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.
OR1C1
olfactory receptor family 1 subfamily C member 1
Chromosome 1 Β· 1q44
NCBI Gene: 26188Ensembl: ENSG00000221888.4HGNC: HGNC:8182UniProt: A0A126GV94
9PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
signal transductionplasma membraneolfactory receptor activitymembranepreeclampsiaocular hypotensionbone remodeling diseasegastric carcinoma
✦AI Summary

OR1C1 is an olfactory receptor (OR) and G protein-coupled receptor (GPCR) that functions as an odorant receptor involved in sensory perception of smell 1. As a membrane-localized GPCR, OR1C1 mediates signal transduction through G protein-coupled signaling mechanisms characteristic of the OR family, the most diverse GPCR subfamily 2. OR1C1 has emerged as genetically associated with autism spectrum disorder (ASD), appearing among 23 brain-expressed GPCRs with ASD genetic links 1. Altered expression of OR1C1 has been implicated in ASD development, alongside related neuropsychiatric conditions including ADHD, schizophrenia, epilepsy, anxiety, depression, and sleep disorders 2. Copy number variations (CNVs) involving OR1C1 have been identified in ASD patient cohorts, with OR1C1 highlighted as a strengthened pathogenic gene candidate within CNVs identified in Brazilian individuals with ASD 3. Clinically, OR1C1 represents an emerging therapeutic target for ASD and associated disorders, though as an orphan GPCR, challenges remain in identifying its natural ligands and fully characterizing its physiological roles in neurological function 2. Further research is needed to elucidate the mechanistic link between OR1C1 dysfunction and ASD pathogenesis.

Sources cited
1
OR1C1 is genetically associated with ASD and is among 23 brain-expressed GPCRs linked to autism spectrum disorder
PMID: 37574491
2
OR1C1 is an olfactory receptor with altered expression in ASD; olfactory receptors are the most diverse GPCR family expressed in CNS with roles in ASD and related psychiatric conditions
PMID: 40538218
3
OR1C1 is a strengthened pathogenic gene candidate within copy number variations identified in Brazilian ASD cohorts
PMID: 34664255
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜8
preeclampsiaOpen Targets
0.05Suggestive
ocular hypotensionOpen Targets
0.02Suggestive
bone remodeling diseaseOpen Targets
0.02Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
COVID-19Open Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
myocardial infarctionOpen Targets
0.00Suggestive
colorectal cancerOpen 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 Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
OR1C1OR8U9OR8U8OR14J1OR9K2OR5B3OR5K4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q15619
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.87LoF Tolerant
pLIβ“˜
0.32Tolerant
Observed/Expected LoF0.00 [0.00–1.87]
RankingsWhere OR1C1 stands among ~20K protein-coding genes
  • #17,401of 20,598
    Most Researched9
  • #17,022of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedOR1C1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Towards the convergent therapeutic potential of G protein-coupled receptors in autism spectrum disorders.
PMID: 37574491
Br J Pharmacol Β· 2025
1.00
2
Orphan G Protein-Coupled Receptors: A Novel Research Frontier in Autism and Associated Disorders.
PMID: 40538218
Arch Pharm (Weinheim) Β· 2025
0.67
3
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
PMID: 34664255
Clin Genet Β· 2022
0.33