VN1R1 Gene - Vomeronasal 1 Receptor 1
A comprehensive biomedical overview of the VN1R1 gene, including genomic context, expression, and functional annotations.
Gene Information Card
| Symbol | VN1R1 |
|---|---|
| Full Name | Vomeronasal 1 Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 57191 ncbi.nlm.nih.gov/gene/57191 |
| Ensembl ID | ENSG00000185950 |
| UniProt ID | Q9H2H8 |
| OMIM ID | 611136 |
| HGNC ID | 15922 |
| Aliases | V1RL1, V1r-like 1, V1RL1 |
Description
VN1R1 (Vomeronasal 1 Receptor 1) is a protein-coding gene located on chromosome 19q13.42. It encodes a member of the vomeronasal type 1 receptor family, which are G protein-coupled receptors (GPCRs) implicated in pheromone detection and social chemosensory signaling. The gene is predominantly expressed in the olfactory mucosa and vomeronasal organ, with low-level expression in other tissues. VN1R1 is considered a pseudogene in some individuals due to polymorphic inactivation, but functional alleles exist.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease association | Not applicable | No direct evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory mucosa | 0.3 | Low |
| Testis | 0.1 | Low |
| Brain (cerebellum) | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No detectable expression |
| HepG2 | 0.0 | No detectable expression |
| K562 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs61733845 | SNV (missense) | <0.01 (global) | R88W; likely benign |
| rs150813342 | SNV (nonsense) | <0.001 | Q41*; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant Q41* introduces premature stop codon, likely resulting in nonsense-mediated decay or truncated non-functional protein.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • pheromone receptor activity |
| • plasma membrane | • signal transduction |
| • detection of chemical stimulus involved in sensory perception |
Pathways
• GPCR downstream signaling
• Olfactory transduction (KEGG:04740)
Protein Summary
The VN1R1 protein (UniProt Q9H2H8) is a 310-amino acid G protein-coupled receptor with seven transmembrane domains. It is expressed in the vomeronasal organ and olfactory epithelium, where it is thought to bind pheromonal ligands and initiate intracellular signaling cascades via G proteins. The receptor is highly polymorphic, with several non-synonymous variants that may affect ligand binding or receptor trafficking. In many individuals, VN1R1 is a pseudogene due to a frameshift or nonsense mutation, but functional alleles exist in a subset of the population.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VN1R1 Knockout HEK293 Cell Line | EDJ-KQ17359 | Human | 57191 | Details Get a Quote |
| VN1R1 Knockout HeLa Cell Line | EDJ-KQ56822 | Human | 57191 | Details Get a Quote |
| VN1R1 Knockout A-549 Cell Line | EDJ-KQ65332 | Human | 57191 | Details Get a Quote |
| VN1R1 Knockout HCT 116 Cell Line | EDJ-KQ73769 | Human | 57191 | Details Get a Quote |
