RXFP1: Relaxin Family Peptide Receptor 1
A G protein-coupled receptor for relaxin with roles in fibrosis, reproduction, and cardiovascular function
Gene Information Card
| Symbol | RXFP1 |
|---|---|
| Full Name | Relaxin family peptide receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 59350 ncbi.nlm.nih.gov/gene/59350 |
| Ensembl ID | ENSG00000171509 |
| UniProt ID | Q9HBX9 |
| OMIM ID | 606654 |
| HGNC ID | 17278 |
| Aliases | LGR7, RXFP1, MGC138347, MGC138349 |
Description
RXFP1 (relaxin family peptide receptor 1) encodes a G protein-coupled receptor that binds relaxin and related peptides. It is involved in reproductive physiology, cardiovascular regulation, and fibrosis. The receptor activates multiple signaling pathways, including cAMP and MAPK cascades, and is expressed in various tissues such as the uterus, heart, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fibrosis (renal, cardiac, pulmonary) | Loss of RXFP1 signaling reduces antifibrotic effects of relaxin | ClinVar, NCBI Gene |
| Preterm labor | Altered relaxin receptor activity affects uterine quiescence | OMIM |
| Cardiovascular disease | Impaired RXFP1-mediated vasodilation and cardiac protection | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Uterus | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Overexpressed in recombinant studies |
| MCF7 | 2.1 | Low endogenous expression |
| HepG2 | 1.8 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | Rare | Reduced receptor activation |
| c.567delA (p.Glu189fs) | Frameshift | Very rare | Loss of function |
| c.890G>A (p.Arg297His) | Missense | Rare | Altered ligand binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations that impair receptor expression or signaling (e.g., p.Glu189fs, p.Arg412Cys)
Gain of Function (GOF)
Not reported in literature or curated databases
Dominant Negative (DN)
Not reported in literature or curated databases
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • relaxin receptor activity (GO:0051428) |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189) | • positive regulation of cAMP-mediated signaling (GO:0030819) |
| • cell surface receptor signaling pathway (GO:0007166) |
Pathways
• Relaxin signaling pathway (KEGG hsa04934)
• cAMP signaling pathway (KEGG hsa04024)
• GPCR downstream signaling (Reactome R-HSA-388396)
Protein Summary
RXFP1 is a 757-amino acid G protein-coupled receptor with a large extracellular domain containing leucine-rich repeats. It binds relaxin and mediates antifibrotic, vasodilatory, and reproductive effects. The receptor couples primarily to Gs and activates cAMP production, but also engages MAPK and PI3K pathways. Mutations in RXFP1 are associated with altered receptor function and disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RXFP1 Knockout HEK293 Cell Line | EDJ-KQ12151 | Human | 59350 | Details Get a Quote |
| RXFP1 Knockout HeLa Cell Line | EDJ-KQ56970 | Human | 59350 | Details Get a Quote |
| RXFP1 Knockout A-549 Cell Line | EDJ-KQ65472 | Human | 59350 | Details Get a Quote |
| RXFP1 Knockout HCT 116 Cell Line | EDJ-KQ73911 | Human | 59350 | Details Get a Quote |
