Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RIPPLY3 Gene

Aliases for RIPPLY3 Gene

  • Ripply Transcriptional Repressor 3 2 3
  • Down Syndrome Critical Region Protein 6 3 4
  • Down Syndrome Critical Region Gene 6 2 3
  • DSCR6 3 4
  • Ripply3 Homolog (Zebrafish) 2
  • Protein Ripply3 3
  • Ripply3 Homolog 3
  • DSCR6, 6

External Ids for RIPPLY3 Gene

Previous HGNC Symbols for RIPPLY3 Gene

  • DSCR6

Previous GeneCards Identifiers for RIPPLY3 Gene

  • GC21P038379

Summaries for RIPPLY3 Gene

GeneCards Summary for RIPPLY3 Gene

RIPPLY3 (Ripply Transcriptional Repressor 3) is a Protein Coding gene. Diseases associated with RIPPLY3 include down syndrome.

UniProtKB/Swiss-Prot for RIPPLY3 Gene

  • Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIPPLY3 Gene

Genomics for RIPPLY3 Gene

Genomic Location for RIPPLY3 Gene

Start:
37,006,150 bp from pter
End:
37,019,659 bp from pter
Size:
13,510 bases
Orientation:
Plus strand

Genomic View for RIPPLY3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RIPPLY3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIPPLY3 Gene

No data available for Regulatory Elements for RIPPLY3 Gene

Proteins for RIPPLY3 Gene

  • Protein details for RIPPLY3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57055-DSCR6_HUMAN
    Recommended name:
    Protein ripply3
    Protein Accession:
    P57055
    Secondary Accessions:

    Protein attributes for RIPPLY3 Gene

    Size:
    190 amino acids
    Molecular mass:
    20368 Da
    Quaternary structure:
    • Interacts with TBX1.

    Alternative splice isoforms for RIPPLY3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIPPLY3 Gene

Proteomics data for RIPPLY3 Gene at MOPED

Post-translational modifications for RIPPLY3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIPPLY3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RIPPLY3 Gene

Domains for RIPPLY3 Gene

Protein Domains for RIPPLY3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P57055

UniProtKB/Swiss-Prot:

DSCR6_HUMAN :
  • P57055
Domain:
  • The Ripply homology domain and the WRPW motif are both necessary for its transcriptional corepressor activity on the transcription activator TBX1.
  • The WRPW motif is required for binding to tle/groucho proteins.
Family:
  • Belongs to the ripply family.
genes like me logo Genes that share domains with RIPPLY3: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for RIPPLY3 Gene

Function for RIPPLY3 Gene

Molecular function for RIPPLY3 Gene

UniProtKB/Swiss-Prot Function: Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity).

Gene Ontology (GO) - Molecular Function for RIPPLY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with RIPPLY3: view
genes like me logo Genes that share phenotypes with RIPPLY3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RIPPLY3 Gene

Localization for RIPPLY3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIPPLY3 Gene

Gene Ontology (GO) - Cellular Components for RIPPLY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10814524
genes like me logo Genes that share ontologies with RIPPLY3: view

No data available for Subcellular locations from COMPARTMENTS for RIPPLY3 Gene

Pathways for RIPPLY3 Gene

SuperPathways for RIPPLY3 Gene

No Data Available

Interacting Proteins for RIPPLY3 Gene

Gene Ontology (GO) - Biological Process for RIPPLY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007507 heart development IEA --
GO:0008150 biological_process ND --
GO:0060037 pharyngeal system development IEA --
genes like me logo Genes that share ontologies with RIPPLY3: view

No data available for Pathways by source for RIPPLY3 Gene

Transcripts for RIPPLY3 Gene

mRNA/cDNA for RIPPLY3 Gene

(8) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for RIPPLY3 Gene

No ASD Table

Relevant External Links for RIPPLY3 Gene

GeneLoc Exon Structure for
RIPPLY3
ECgene alternative splicing isoforms for
RIPPLY3

Expression for RIPPLY3 Gene

mRNA expression in normal human tissues for RIPPLY3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIPPLY3 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (5.2), Prostate (4.7), Bladder (4.5), and Brain - Caudate (basal ganglia) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for RIPPLY3 Gene

mRNA Expression by UniProt/SwissProt for RIPPLY3 Gene

P57055-DSCR6_HUMAN
Tissue specificity: Expressed at a low level in fetal kidney and fetal brain.
genes like me logo Genes that share expressions with RIPPLY3: view

Orthologs for RIPPLY3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIPPLY3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSCR6 35
  • 99.12 (n)
  • 97.89 (a)
RIPPLY3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RIPPLY3 35
  • 71.56 (n)
  • 61.02 (a)
RIPPLY3 36
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCR6 35
  • 74.13 (n)
  • 65.73 (a)
RIPPLY3 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ripply3 35
  • 68.28 (n)
  • 64.52 (a)
Ripply3 16
Ripply3 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIPPLY3 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ripply3 35
  • 68.04 (n)
  • 63.64 (a)
chicken
(Gallus gallus)
Aves DSCR6 35
  • 58.67 (n)
  • 48 (a)
RIPPLY3 36
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ripply3 36
  • 37 (a)
OneToOne
Species with no ortholog for RIPPLY3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RIPPLY3 Gene

ENSEMBL:
Gene Tree for RIPPLY3 (if available)
TreeFam:
Gene Tree for RIPPLY3 (if available)

Paralogs for RIPPLY3 Gene

Pseudogenes.org Pseudogenes for RIPPLY3 Gene

genes like me logo Genes that share paralogs with RIPPLY3: view

No data available for Paralogs for RIPPLY3 Gene

Variants for RIPPLY3 Gene

Sequence variations from dbSNP and Humsavar for RIPPLY3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs374483 -- 37,016,210(+) TTCAC(A/G)GTGGG intron-variant
rs386734 -- 37,008,142(+) CCTGG(C/G/T)GCTTG intron-variant
rs439715 -- 37,004,279(+) CACTG(C/G)ACTCC upstream-variant-2KB
rs1012939 -- 37,015,034(+) CACca(A/G)tggtt intron-variant
rs1621835 -- 37,004,808(+) TAGCC(G/T)CCTCC upstream-variant-2KB

Relevant External Links for RIPPLY3 Gene

HapMap Linkage Disequilibrium report
RIPPLY3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RIPPLY3 Gene

Disorders for RIPPLY3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for RIPPLY3 Gene including...

Search for RIPPLY3 Gene in MalaCards »
genes like me logo Genes that share disorders with RIPPLY3: view

No data available for UniProtKB/Swiss-Prot for RIPPLY3 Gene

Publications for RIPPLY3 Gene

  1. Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. (PMID: 10814524) Shibuya K. … Shimizu N. (Biochem. Biophys. Res. Commun. 2000) 2 3 4
  2. RIPPLY3 is a retinoic acid-inducible repressor required for setting the borders of the pre-placodal ectoderm. (PMID: 22354841) Janesick A. … Blumberg B. (Development 2012) 2 3
  3. Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites. (PMID: 16326386) Kawamura A. … Takada S. (Dev. Cell 2005) 4
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3

Products for RIPPLY3 Gene

Sources for RIPPLY3 Gene

Back to Top

Content