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P57055

- DSCR6_HUMAN

UniProt

P57055 - DSCR6_HUMAN

Protein

Protein ripply3

Gene

RIPPLY3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 1 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Biological processi

    1. heart development Source: Ensembl
    2. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    3. pharyngeal system development Source: Ensembl
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein ripply3
    Alternative name(s):
    Down syndrome critical region protein 6
    Gene namesi
    Name:RIPPLY3
    Synonyms:DSCR6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:3047. RIPPLY3.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27499.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 190190Protein ripply3PRO_0000080020Add
    BLAST

    Proteomic databases

    PaxDbiP57055.
    PRIDEiP57055.

    PTM databases

    PhosphoSiteiP57055.

    Expressioni

    Tissue specificityi

    Expressed at a low level in fetal kidney and fetal brain.1 Publication

    Gene expression databases

    BgeeiP57055.
    CleanExiHS_DSCR6.
    GenevestigatoriP57055.

    Organism-specific databases

    HPAiHPA055541.

    Interactioni

    Subunit structurei

    Interacts with TBX1.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliP57055.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni77 – 11236Ripply homology domainAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi39 – 424WRPW motif

    Domaini

    The Ripply homology domain and the WRPW motif are both necessary for its transcriptional corepressor activity on the transcription activator TBX1.By similarity
    The WRPW motif is required for binding to tle/groucho proteins.By similarity

    Sequence similaritiesi

    Belongs to the ripply family.Curated

    Phylogenomic databases

    eggNOGiNOG42572.
    HOGENOMiHOG000088628.
    InParanoidiP57055.
    OMAiPGGKGRD.
    OrthoDBiEOG7P8PB1.
    PhylomeDBiP57055.
    TreeFamiTF336045.

    Family and domain databases

    InterProiIPR028127. Ripply_fam.
    [Graphical view]
    PANTHERiPTHR16770. PTHR16770. 1 hit.
    PfamiPF14998. Ripply. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P57055-1) [UniParc]FASTAAdd to Basket

    Also known as: A

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEPEAAAGAR KARGRGCHCP GDAPWRPPPP RGPESPAPWR PWIQTPGDAE    50
    LTRTGRPLEP RADQHTFGSK GAFGFQHPVR VYLPMSKRQE YLRSSGEQVL 100
    ASFPVQATID FYDDESTESA SEAEEPEEGP PPLHLLPQEV GGRQENGPGG 150
    KGRDQGINQG QRSSGGGDHW GEGPLPQGVS SRGGKCSSSK 190
    Length:190
    Mass (Da):20,368
    Last modified:December 1, 2000 - v1
    Checksum:iBF1C3EBD19375E1E
    GO
    Isoform 2 (identifier: P57055-2) [UniParc]FASTAAdd to Basket

    Also known as: B, C, D

    The sequence of this isoform differs from the canonical sequence as follows:
         1-84: Missing.

    Show »
    Length:106
    Mass (Da):11,198
    Checksum:i67613F566A2ED34B
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8484Missing in isoform 2. 1 PublicationVSP_004205Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037158 mRNA. Translation: BAA96867.1.
    AB037159 mRNA. Translation: BAA96868.1.
    AB037160 mRNA. Translation: BAA96869.1.
    AB037161 mRNA. Translation: BAA96870.1.
    CCDSiCCDS13648.1. [P57055-1]
    RefSeqiNP_061835.1. NM_018962.2. [P57055-1]
    XP_005261050.1. XM_005260993.1. [P57055-2]
    UniGeneiHs.254560.

    Genome annotation databases

    EnsembliENST00000329553; ENSP00000331734; ENSG00000183145. [P57055-1]
    GeneIDi53820.
    KEGGihsa:53820.
    UCSCiuc002yvv.3. human. [P57055-1]

    Polymorphism databases

    DMDMi9973058.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037158 mRNA. Translation: BAA96867.1 .
    AB037159 mRNA. Translation: BAA96868.1 .
    AB037160 mRNA. Translation: BAA96869.1 .
    AB037161 mRNA. Translation: BAA96870.1 .
    CCDSi CCDS13648.1. [P57055-1 ]
    RefSeqi NP_061835.1. NM_018962.2. [P57055-1 ]
    XP_005261050.1. XM_005260993.1. [P57055-2 ]
    UniGenei Hs.254560.

    3D structure databases

    ProteinModelPortali P57055.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei P57055.

    Polymorphism databases

    DMDMi 9973058.

    Proteomic databases

    PaxDbi P57055.
    PRIDEi P57055.

    Protocols and materials databases

    DNASUi 53820.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329553 ; ENSP00000331734 ; ENSG00000183145 . [P57055-1 ]
    GeneIDi 53820.
    KEGGi hsa:53820.
    UCSCi uc002yvv.3. human. [P57055-1 ]

    Organism-specific databases

    CTDi 53820.
    GeneCardsi GC21P038379.
    H-InvDB HIX0040841.
    HGNCi HGNC:3047. RIPPLY3.
    HPAi HPA055541.
    MIMi 609892. gene.
    neXtProti NX_P57055.
    PharmGKBi PA27499.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42572.
    HOGENOMi HOG000088628.
    InParanoidi P57055.
    OMAi PGGKGRD.
    OrthoDBi EOG7P8PB1.
    PhylomeDBi P57055.
    TreeFami TF336045.

    Miscellaneous databases

    GenomeRNAii 53820.
    NextBioi 56124.
    PROi P57055.
    SOURCEi Search...

    Gene expression databases

    Bgeei P57055.
    CleanExi HS_DSCR6.
    Genevestigatori P57055.

    Family and domain databases

    InterProi IPR028127. Ripply_fam.
    [Graphical view ]
    PANTHERi PTHR16770. PTHR16770. 1 hit.
    Pfami PF14998. Ripply. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2."
      Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Shimizu N.
      Biochem. Biophys. Res. Commun. 271:693-698(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
      Tissue: Fetal brain, Fetal kidney, Fetal retina and Fetal testis.
    2. "Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites."
      Kawamura A., Koshida S., Hijikata H., Ohbayashi A., Kondoh H., Takada S.
      Dev. Cell 9:735-744(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION AS RIPPLY3.

    Entry informationi

    Entry nameiDSCR6_HUMAN
    AccessioniPrimary (citable) accession number: P57055
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 88 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3