RTP3 (Receptor Transporter Protein 3)
A key regulator of G protein-coupled receptor trafficking and cell surface expression
Gene Information Card
| Symbol | RTP3 |
|---|---|
| Full Name | Receptor Transporter Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 83597 ncbi.nlm.nih.gov/gene/83597 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | Q9BZQ6 |
| OMIM ID | 610504 |
| HGNC ID | 20865 |
| Aliases | RTP3, MGC12966, dJ366L4.2 |
Description
RTP3 (Receptor Transporter Protein 3) is a protein-coding gene that encodes a member of the receptor transporter protein family. This protein is involved in the trafficking and cell surface expression of G protein-coupled receptors (GPCRs), particularly olfactory receptors. RTP3 is expressed in multiple tissues and plays a role in sensory perception and GPCR signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Olfactory dysfunction | Impaired trafficking of olfactory receptors to the cell membrane | PMID: 16959974 |
| Cancer (various) | Altered GPCR signaling due to RTP3 dysregulation | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| A549 | 7.4 | Low expression |
| MCF7 | 5.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | 0.001% | Unknown functional impact |
| c.502G>A (p.Gly168Arg) | Missense | 0.0005% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants may impair protein stability or interaction with GPCRs, reducing cell surface expression.
Gain of Function (GOF)
Not reported in current databases.
Dominant Negative (DN)
Not documented.
View complete mutation data:
Gene Ontology (GO)
| • signaling receptor activity (GO:0038023) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • G protein-coupled receptor signaling pathway (GO:0007186) |
| • response to stimulus (GO:0050896) |
Pathways
• GPCR signaling pathway (Reactome: R-HSA-372790)
• Olfactory signaling pathway (Reactome: R-HSA-381753)
Protein Summary
RTP3 is a 238-amino acid transmembrane protein that localizes to the endoplasmic reticulum and plasma membrane. It functions as a chaperone for GPCRs, facilitating their proper folding, export from the ER, and insertion into the cell membrane. RTP3 is critical for olfactory receptor function and may influence other GPCR-mediated processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTP3 Knockout HEK293 Cell Line | EDJ-KQ9866 | Human | 83597 | Details Get a Quote |
| RTP3 Knockout HeLa Cell Line | EDJ-KQ57455 | Human | 83597 | Details Get a Quote |
| RTP3 Knockout A-549 Cell Line | EDJ-KQ65959 | Human | 83597 | Details Get a Quote |
| RTP3 Knockout HCT 116 Cell Line | EDJ-KQ74382 | Human | 83597 | Details Get a Quote |