OR5K1
Olfactory Receptor Family 5 Subfamily K Member 1
Gene Information Card
| Symbol | OR5K1 |
|---|---|
| Full Name | Olfactory Receptor Family 5 Subfamily K Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q12.1 |
| NCBI Gene ID | 81559 ncbi.nlm.nih.gov/gene/81559 |
| Ensembl ID | ENSG00000174876 |
| UniProt ID | Q8NHB7 |
| OMIM ID | 618425 |
| HGNC ID | 14792 |
| Aliases | OR5K1P, OR5K1Q, OR5K1R |
Description
OR5K1 encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) superfamily. These receptors are expressed in the olfactory epithelium and mediate the detection of odorants through a cAMP signaling cascade. The gene is part of the large olfactory receptor gene family, which is the largest in the human genome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Nasal epithelium | 0.0 | Not detected |
| Whole blood | 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 |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function variants
Gain of Function (GOF)
No known gain-of-function variants
Dominant Negative (DN)
No known dominant-negative variants
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • detection of chemical stimulus involved in sensory perception of smell | • plasma membrane |
Pathways
• Olfactory transduction (KEGG: hsa04740)
Protein Summary
OR5K1 is a 312-amino acid olfactory receptor protein with seven transmembrane domains, typical of GPCRs. It is predicted to bind odorant molecules and activate G proteins, initiating a signal transduction cascade that leads to neuronal depolarization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR5K1 Knockout HEK293 Cell Line | EDJ-KQ8518 | Human | 26339 | Details Get a Quote |
| OR5K1 Knockout HeLa Cell Line | EDJ-KQ55933 | Human | 26339 | Details Get a Quote |
| OR5K1 Knockout A-549 Cell Line | EDJ-KQ64420 | Human | 26339 | Details Get a Quote |
| OR5K1 Knockout HCT 116 Cell Line | EDJ-KQ72874 | Human | 26339 | Details Get a Quote |
