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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RIPPLY1
ripply transcriptional repressor 1
Chromosome X · Xq22.3
NCBI Gene: 92129Ensembl: ENSG00000147223.6HGNC: HGNC:25117UniProt: Q0D2K3
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of transcription by RNA polymerase IIsomite specificationembryonic pattern specificationautosomal recessive spondylocostal dysostosisKlippel-Feil syndrome 3, autosomal dominantPrata-Liberal-Goncalves syndromeosteomesopyknosis
✦AI Summary

RIPPLY1 is a transcriptional repressor essential for embryonic somitogenesis and segmentation. Primary function: RIPPLY1 acts as a Groucho/TLE-associated corepressor that converts T-box transcription factors from activators to repressors 1. During somite development, RIPPLY1 represses segmentation genes like mesp-b in the presomitic mesoderm, terminating the segmentation program and maintaining rostrocaudal polarity in newly formed somites 2. Mechanism: RIPPLY1 associates directly with T-box proteins (including Tbx24 and TBX19) through a Groucho-interacting motif, recruiting the corepressor complex to suppress transcriptional activation 1, 3. Disease relevance: RIPPLY1 variants are implicated in multiple developmental disorders. Hemizygous RIPPLY1 deletions were identified in laterality defect cases 4, and protein-truncating variants were found in congenital scoliosis patients 5. X-linked RIPPLY1 mutations have been associated with intellectual disability and ataxia 6. Clinical significance: In hepatocellular carcinoma with CTNNB1 mutations, RIPPLY1 suppresses cancer stem cell properties by targeting TBX19 degradation, with higher RIPPLY1 correlating with better patient prognosis 3. RIPPLY1 polymorphisms are also associated with alcohol-induced chrX pancreatitis risk 7.

Sources cited
1
RIPPLY1 transactivation by Wnt/β-catenin pathway; upregulation in CTNNB1-mutated HCC correlates with better prognosis; suppresses TBX19 activity and cancer stem cell properties
PMID: 40901752
2
RIPPLY1 and Ripply family proteins convert T-box transcription factors from activators to repressors via Groucho/TLE recruitment; essential for somite segmentation
PMID: 18332117
3
RIPPLY1 required for transition from presomitic mesoderm to somites; represses mesp-b through Groucho-interacting motif; maintains rostrocaudal polarity and terminates segmentation program
PMID: 16326386
4
Hemizygous RIPPLY1 deletion identified in laterality defect cases; potential role in embryonic left-right patterning
PMID: 30622330
5
Protein-truncating RIPPLY1 variants identified in congenital scoliosis patients; proposed oligogenic disease-causing mode with other TBX6-mediated genes
PMID: 32815649
6
X-linked RIPPLY1 mutations associated with intellectual disability and ataxia in consanguineous families
PMID: 26443249
7
CLDN2-RIPPLY1-MORC4 locus polymorphisms confer increased risk for alcohol-induced chronic pancreatitis
PMID: 26149858
Disease Associationsⓘ20
autosomal recessive spondylocostal dysostosisOpen Targets
0.07Suggestive
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.05Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.05Suggestive
osteomesopyknosisOpen Targets
0.05Suggestive
osteoarthritis, kneeOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
medical procedureOpen Targets
0.03Suggestive
alcoholic pancreatitisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
acute pancreatitisOpen Targets
0.02Suggestive
chronic pancreatitisOpen Targets
0.02Suggestive
osteoarthritis, hipOpen Targets
0.02Suggestive
pancreatitisOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
spondylocostal dysostosisOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
osteoporosisOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TLE5Protein interaction83%TLE1Protein interaction83%TLE2Protein interaction83%TLE3Protein interaction83%TLE4Protein interaction83%RIPPLY2Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Ovary
3%
Brain
2%
Lung
2%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
RIPPLY1TLE5TLE1TLE2TLE3TLE4RIPPLY2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q0D2K3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.15 [0.71–1.94]
RankingsWhere RIPPLY1 stands among ~20K protein-coding genes
  • #17,163of 20,598
    Most Researched10
  • #17,607of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedRIPPLY1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RIPPLY1 suppresses cancer cell stemness via targeting TBX19 in CTNNB1 -mutated hepatocellular carcinoma.
PMID: 40901752
Hepatology · 2025
1.00
2
Activator-to-repressor conversion of T-box transcription factors by the Ripply family of Groucho/TLE-associated mediators.
PMID: 18332117
Mol Cell Biol · 2008
0.90
3
Genetic susceptibility factors for alcohol-induced chronic pancreatitis.
PMID: 26149858
Pancreatology · 2015
0.80
4
Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites.
PMID: 16326386
Dev Cell · 2005
0.70
5
Genetic architecture of laterality defects revealed by whole exome sequencing.
PMID: 30622330
Eur J Hum Genet · 2019
0.60