RIPPLY1 (ripply transcriptional repressor 1)

Gene

• Entrez ID: 92129
• Gene name: Ripply transcriptional repressor 1
• Gene symbol: RIPPLY1
• Synonyms (NCBI Gene): -
• Chromosome: X
• Chromosome location: Xq22.3
• Summary: This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different isoforms have been found

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1307649	hsa-miR-1237	CLIP-seq
MIRT1307650	hsa-miR-1248	CLIP-seq
MIRT1307651	hsa-miR-4777-5p	CLIP-seq
MIRT1307652	hsa-miR-518d-5p	CLIP-seq
MIRT1307653	hsa-miR-519b-5p	CLIP-seq
MIRT1307654	hsa-miR-519c-5p	CLIP-seq
MIRT1307655	hsa-miR-520c-5p	CLIP-seq
MIRT1307656	hsa-miR-526a	CLIP-seq
MIRT1307657	hsa-miR-1273f	CLIP-seq
MIRT1307658	hsa-miR-143	CLIP-seq
MIRT1307659	hsa-miR-2861	CLIP-seq
MIRT1307660	hsa-miR-3670	CLIP-seq
MIRT1307661	hsa-miR-3915	CLIP-seq
MIRT1307662	hsa-miR-3928	CLIP-seq
MIRT1307663	hsa-miR-4512	CLIP-seq
MIRT1307664	hsa-miR-4696	CLIP-seq
MIRT1307665	hsa-miR-4708-5p	CLIP-seq
MIRT1307666	hsa-miR-4770	CLIP-seq
MIRT1307667	hsa-miR-513a-5p	CLIP-seq
MIRT1307668	hsa-miR-544b	CLIP-seq
MIRT1307651	hsa-miR-4777-5p	CLIP-seq
MIRT1307652	hsa-miR-518d-5p	CLIP-seq
MIRT1307653	hsa-miR-519b-5p	CLIP-seq
MIRT1307654	hsa-miR-519c-5p	CLIP-seq
MIRT1307655	hsa-miR-520c-5p	CLIP-seq
MIRT1307656	hsa-miR-526a	CLIP-seq
MIRT1307651	hsa-miR-4777-5p	CLIP-seq
MIRT1307652	hsa-miR-518d-5p	CLIP-seq
MIRT1307653	hsa-miR-519b-5p	CLIP-seq
MIRT1307654	hsa-miR-519c-5p	CLIP-seq
MIRT1307655	hsa-miR-520c-5p	CLIP-seq
MIRT1307656	hsa-miR-526a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0001757	Process	Somite specification	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0009880	Process	Embryonic pattern specification	IBA
GO:0009880	Process	Embryonic pattern specification	ISS
GO:0032525	Process	Somite rostral/caudal axis specification	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS

Other IDs

• MIM: 300575
• HGNC: 25117
• e!Ensembl: ENSG00000147223

Protein

• UniProt ID: Q0D2K3
• Protein name: Protein ripply1
• Protein function: Plays a role in somitogenesis. Essential for transcriptional repression of the segmental patterning genes, thus terminating the segmentation program in the presomitic mesoderm, and also required for the maintenance of rostrocaudal polarity in so
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14998	Ripply	56 → 140	Transcription Regulator	Family

• Sequence:

  MDSAACAAAATPVPALALALAPDLAQAPLALPGLLSPSCLLSSGQEVNGSERGTCLWRPW
  LSSTNDSPRQMRKLVDLAAGGATAAEVTKAESKFHHPVRLFWPKSRSFDYLYSAGEILLQ
  NFPVQATINLYEDSDSEEEEEDEEQEDEEEK

• Sequence length: 151

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, AND DYSEQUILIBRIUM	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSEQUILIBRIUM SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLY1-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Pancreatitis	Pancreatitis	GWASDB_DG	23143602		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25253127		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	32815649	Associate	★☆☆☆☆ Found in Text Mining only