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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RLN1
relaxin 1
Chromosome 9 · 9p24.1
NCBI Gene: 6013Ensembl: ENSG00000107018.8HGNC: HGNC:10026UniProt: P04808
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinghormone activitysignal transductionfemale pregnancyneurodegenerative diseaseulcerative colitisIsolated follicle stimulating hormone deficiencyazoospermia
✦AI Summary

RLN1 (relaxin 1) encodes a peptide hormone that functions primarily in reproductive processes and tissue remodeling, with emerging roles in cancer biology. RLN1 acts through binding to the relaxin family peptide receptor 1 (RXFP1, also known as LGR7) to mediate anti-fibrotic effects and extracellular matrix remodeling 1. The gene shows tissue-specific expression, with high levels in prostate tissue, and can form novel fusion transcripts with RLN2 in prostate cancer 2. In heart failure with reduced ejection fraction, elevated circulating RLN1 levels correlate inversely with myocardial fibrosis, suggesting a protective anti-fibrotic role 1. However, RLN1 also promotes cancer progression through multiple mechanisms including increased cell proliferation, invasion, and adhesion while decreasing apoptosis 3. In breast cancer, RLN2 (but not RLN1) is directly regulated by estrogen receptor-alpha, with expression increasing cancer cell invasiveness 4. Despite high transcript levels in cancer cell lines, endogenous RLN1 protein is often undetectable by sensitive immunoaffinity-mass spectrometry methods, raising questions about post-transcriptional regulation 5. The dual role of RLN1 as both a protective anti-fibrotic factor and cancer promoter highlights its complex biological functions.

Sources cited
1
RLN1 has anti-fibrotic effects and elevated levels correlate inversely with myocardial fibrosis in heart failure patients
PMID: 31231242
2
RLN1 shows tissue-specific expression in prostate and can form fusion transcripts with RLN2
PMID: 26499396
3
RLN1 promotes cancer progression by increasing proliferation, invasion, and adhesion while decreasing apoptosis
PMID: 17363522
4
RLN2 is directly regulated by estrogen receptor-alpha in breast cancer cells
PMID: 19416221
5
Despite high transcript levels, endogenous RLN1 protein is often undetectable by sensitive methods
PMID: 38739617
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.19Weak
ulcerative colitisOpen Targets
0.06Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
azoospermiaOpen Targets
0.05Suggestive
Kallmann syndromeOpen Targets
0.05Suggestive
partial androgen insensitivity syndromeOpen Targets
0.05Suggestive
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyOpen Targets
0.04Suggestive
ring chromosome YOpen Targets
0.04Suggestive
isochromosomy YpOpen Targets
0.04Suggestive
Leydig cell hypoplasiaOpen Targets
0.04Suggestive
thyroid diseaseOpen Targets
0.04Suggestive
Kennedy diseaseOpen Targets
0.04Suggestive
hypogonadotropic hypogonadismOpen Targets
0.04Suggestive
isochromosomy YqOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
familial male-limited precocious pubertyOpen Targets
0.04Suggestive
spermatogenic failure 25Open Targets
0.04Suggestive
46,XY partial gonadal dysgenesisOpen Targets
0.04Suggestive
spermatogenic failure 57Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSG1Shared pathway100%PSG4Shared pathway100%PSG6Shared pathway100%PSG7Shared pathway100%PZPShared pathway100%RXFP1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
44%
Heart
0%
Ovary
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
RLN1PSG1PSG4PSG6PSG7PZPRXFP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P04808
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.62LoF Tolerant
pLIⓘ
0.09Tolerant
Observed/Expected LoF0.68 [0.30–1.62]
RankingsWhere RLN1 stands among ~20K protein-coding genes
  • #6,943of 20,598
    Most Researched68
  • #15,765of 17,882
    Most Constrained (LOEUF)1.62
Genes detectedRLN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of a novel fusion transcript between human relaxin-1 (RLN1) and human relaxin-2 (RLN2) in prostate cancer.
PMID: 26499396
Mol Cell Endocrinol · 2016
1.00
2
Circulating Relaxin-1 Level Is a Surrogate Marker of Myocardial Fibrosis in HFrEF.
PMID: 31231242
Front Physiol · 2019
0.90
3
Emerging roles for the relaxin/RXFP1 system in cancer therapy.
PMID: 30763603
Mol Cell Endocrinol · 2019
0.80
4
Estrogen and TCDD influence RLN2 gene activity in estrogen receptor-positive human breast cancer cells.
PMID: 19416221
Ann N Y Acad Sci · 2009
0.70
5
Genetic targeting of relaxin and insl3 signaling in mice.
PMID: 15956690
Ann N Y Acad Sci · 2005
0.60