RIPPLY1
Transcriptional repressor involved in somitogenesis and mesoderm patterning
Gene Information Card
| Symbol | RIPPLY1 |
|---|---|
| Full Name | Ripply transcriptional repressor 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 389677 ncbi.nlm.nih.gov/gene/389677 |
| Ensembl ID | ENSG00000184909 |
| UniProt ID | Q5JXA9 |
| OMIM ID | 300940 |
| HGNC ID | 21395 |
| Aliases | RIPPLY1, FLJ32942 |
Description
RIPPLY1 encodes a transcriptional repressor that plays a critical role in somitogenesis and mesoderm segmentation. It acts downstream of T-box transcription factors to repress gene expression in the presomitic mesoderm, ensuring proper somite boundary formation and vertebral column patterning.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylocostal dysostosis (SCDO) | Loss-of-function mutations disrupt somite segmentation, leading to vertebral and rib malformations. | OMIM #300940; PMID: 25954006 |
| Scoliosis | RIPPLY1 variants may contribute to vertebral segmentation defects associated with scoliosis. | ClinVar; PMID: 25954006 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that truncate or destabilize the protein lead to loss of repressor activity, causing somitogenesis defects.
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)
Pathways
• Notch signaling pathway (involved in somite segmentation)
• T-box transcription factor pathway (TBX6
• MESP2)
Protein Summary
RIPPLY1 is a 147-amino-acid nuclear protein that functions as a transcriptional repressor. It contains a Ripply homology domain and interacts with T-box factors to downregulate target genes during somitogenesis. Its expression is transient and restricted to the presomitic mesoderm during embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIPPLY1 Knockout HEK293 Cell Line | EDJ-KQ10121 | Human | 92129 | Details Get a Quote |
| RIPPLY1 Knockout HeLa Cell Line | EDJ-KQ57824 | Human | 92129 | Details Get a Quote |
| RIPPLY1 Knockout A-549 Cell Line | EDJ-KQ66322 | Human | 92129 | Details Get a Quote |
| RIPPLY1 Knockout HCT 116 Cell Line | EDJ-KQ74746 | Human | 92129 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
