RTP1: Receptor Transport Protein 1
A key regulator of G protein-coupled receptor trafficking and cell surface expression
Gene Information Card
| Symbol | RTP1 |
|---|---|
| Full Name | Receptor Transport Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.3 |
| NCBI Gene ID | 132612 ncbi.nlm.nih.gov/gene/132612 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9H2P0 |
| OMIM ID | 609157 |
| HGNC ID | 18686 |
| Aliases | RTP, MGC131895 |
Description
RTP1 (Receptor Transport Protein 1) encodes a transmembrane protein that functions as a chaperone for G protein-coupled receptors (GPCRs), particularly olfactory receptors. It facilitates the trafficking of these receptors from the endoplasmic reticulum to the cell surface, thereby enabling proper odorant detection and signal transduction. RTP1 is predominantly expressed in olfactory epithelium but also shows low-level expression in other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anosmia (loss of smell) | Impaired RTP1 function may reduce olfactory receptor cell surface expression, leading to defective odorant sensing. | ClinVar; limited direct evidence; inferred from functional studies. |
| Colorectal cancer | RTP1 is reported as a tumor suppressor candidate; downregulation may promote cancer cell proliferation. | COSMIC; NCBI Gene; functional studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory epithelium | Not available (tissue-specific, not in GTEx) | High |
| Testis | 0.3 | Low |
| Brain (cerebellum) | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low; used in overexpression studies |
| HeLa | 0.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in RTP1 are predicted to impair GPCR trafficking, potentially leading to olfactory dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • signaling receptor activity (GO:0038023) | • calcium ion transmembrane transport (GO:0070588) |
| • G protein-coupled receptor signaling pathway (GO:0007186) |
Pathways
• Olfactory transduction (KEGG: hsa04740)
• GPCR downstream signaling
Protein Summary
RTP1 is a 223-amino acid transmembrane protein with a single transmembrane domain. It acts as a receptor transport protein, specifically facilitating the cell surface expression of olfactory receptors and other GPCRs. RTP1 interacts with the receptor in the endoplasmic reticulum and promotes its correct folding and export. The protein is highly expressed in olfactory epithelium and is essential for normal olfaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTP1 Knockout HEK293 Cell Line | EDJ-KQ9282 | Human | 132112 | Details Get a Quote |
| RTP1 Knockout HeLa Cell Line | EDJ-KQ58307 | Human | 132112 | Details Get a Quote |
| RTP1 Knockout A-549 Cell Line | EDJ-KQ66796 | Human | 132112 | Details Get a Quote |
| RTP1 Knockout HCT 116 Cell Line | EDJ-KQ75197 | Human | 132112 | Details Get a Quote |
