OR5AN1
Olfactory Receptor Family 5 Subfamily AN Member 1
Gene Information Card
| Symbol | OR5AN1 |
|---|---|
| Full Name | Olfactory Receptor Family 5 Subfamily AN Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 390168 ncbi.nlm.nih.gov/gene/390168 |
| Ensembl ID | ENSG00000181915 |
| UniProt ID | Q8NGX9 |
| OMIM ID | 618425 |
| HGNC ID | 14796 |
| Aliases | OR5AN1P, OR5AN1Q |
Description
OR5AN1 is a member of the olfactory receptor family, which are G protein-coupled receptors (GPCRs) responsible for detecting odorants. This gene is located on chromosome 11q12.1 and is expressed in olfactory epithelium. It plays a role in the perception of specific odors, including the musk odorant muscone.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations reported | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory mucosa | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs794726721 | missense | <0.01% | Likely benign |
| rs148271042 | missense | <0.01% | Uncertain significance |
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 dominant negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • plasma membrane |
Pathways
• Olfactory transduction - Homo sapiens (human)
Protein Summary
OR5AN1 encodes a 312-amino acid olfactory receptor protein with seven transmembrane domains, typical of GPCRs. It is involved in the detection of odorants, particularly musks, and signals through G protein-mediated pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR5AN1 Knockout HEK293 Cell Line | EDJ-KQ9640 | Human | 390195 | Details Get a Quote |
| OR5AN1 Knockout HeLa Cell Line | EDJ-KQ60153 | Human | 390195 | Details Get a Quote |
| OR5AN1 Knockout A-549 Cell Line | EDJ-KQ68614 | Human | 390195 | Details Get a Quote |
| OR5AN1 Knockout HCT 116 Cell Line | EDJ-KQ76983 | Human | 390195 | Details Get a Quote |
