OR1A1
Olfactory Receptor Family 1 Subfamily A Member 1
Gene Information Card
| Symbol | OR1A1 |
|---|---|
| Full Name | Olfactory Receptor Family 1 Subfamily A Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 8383 ncbi.nlm.nih.gov/gene/8383 |
| Ensembl ID | ENSG00000184933 |
| UniProt ID | Q9P1Q5 |
| OMIM ID | 618047 |
| HGNC ID | 8183 |
| Aliases | OR17-6, OR1A1P, OR1A1Q |
Description
OR1A1 (Olfactory Receptor Family 1 Subfamily A Member 1) is a protein-coding gene that belongs to the G protein-coupled receptor (GPCR) family of olfactory receptors. These receptors are responsible for the detection of odorants in the nasal epithelium. OR1A1 is known to respond to specific odorants such as carvone and other volatile compounds. The gene is located on chromosome 17p13.3 and is expressed in olfactory epithelium and various non-olfactory tissues, suggesting potential roles beyond olfaction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory mucosa | Not available | High |
| Testis | Not available | Medium |
| Lung | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Used in functional studies |
| HeLa | Not available | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs61732668 | missense | 0.1% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported
Gain of Function (GOF)
No confirmed gain-of-function variants reported
Dominant Negative (DN)
No confirmed dominant-negative variants reported
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • plasma membrane | • detection of chemical stimulus involved in sensory perception of smell |
Pathways
• Olfactory transduction (KEGG: hsa04740)
Protein Summary
OR1A1 encodes a 312-amino acid olfactory receptor protein with seven transmembrane domains, characteristic of GPCRs. It is involved in odorant recognition and signal transduction via G proteins. The protein is localized to the plasma membrane of olfactory sensory neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR1A1 Knockout HEK293 Cell Line | EDJ-KQ6220 | Human | 8383 | Details Get a Quote |
| OR1A1 Knockout HeLa Cell Line | EDJ-KQ54892 | Human | 8383 | Details Get a Quote |
| OR1A1 Knockout A-549 Cell Line | EDJ-KQ63379 | Human | 8383 | Details Get a Quote |
| OR1A1 Knockout HCT 116 Cell Line | EDJ-KQ71847 | Human | 8383 | Details Get a Quote |