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P57055

- DSCR6_HUMAN

UniProt

P57055 - DSCR6_HUMAN

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Protein

Protein ripply3

Gene

RIPPLY3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00730000111429.
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

        10         20         30         40         50
MEPEAAAGAR KARGRGCHCP GDAPWRPPPP RGPESPAPWR PWIQTPGDAE
60 70 80 90 100
LTRTGRPLEP RADQHTFGSK GAFGFQHPVR VYLPMSKRQE YLRSSGEQVL
110 120 130 140 150
ASFPVQATID FYDDESTESA SEAEEPEEGP PPLHLLPQEV GGRQENGPGG
160 170 180 190
KGRDQGINQG QRSSGGGDHW GEGPLPQGVS SRGGKCSSSK
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00730000111429.
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 29, 2014
This is version 89 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