OR5AS1 Gene: Function, Expression, and Clinical Significance | Biomedical Database

OR5AS1 is a protein-coding gene that encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) family. Olfactory receptors are primarily expressed in the cilia of olfactory sensory neurons and are responsible for detecting odorants, initiating a signaling cascade that leads to the perception of smell. OR5AS1 is part of the large olfactory receptor gene family, which is the largest in the human genome. While its specific odorant ligands are not yet fully characterized, it is presumed to function in odorant recognition and signal transduction. The gene is located on chromosome 11q12.1 and is intronless, a common feature of olfactory receptor genes. Expression data indicate low-level expression in various tissues, but its primary role is in the olfactory epithelium.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Olfactory transduction pathway (KEGG: hsa04740)

The OR5AS1 protein is a 312-amino-acid transmembrane receptor with seven hydrophobic transmembrane domains, characteristic of GPCRs. It is localized to the plasma membrane, where it binds odorant molecules and activates G protein-mediated signaling. The protein is predicted to have an extracellular N-terminus and intracellular C-terminus, with conserved motifs typical of olfactory receptors. Its exact ligand specificity remains unknown, but it is likely involved in the detection of volatile chemicals.