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Protein

Protein ripply3

Gene

RIPPLY3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein 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

Keywordsi

Molecular functionDevelopmental protein, Repressor
Biological processTranscription, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000183145.8.
HGNCiHGNC:3047. RIPPLY3.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi53820.
OpenTargetsiENSG00000183145.
PharmGKBiPA27499.

Polymorphism and mutation databases

BioMutaiRIPPLY3.
DMDMi9973058.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000800201 – 190Protein ripply3Add BLAST190

Proteomic databases

PaxDbiP57055.
PRIDEiP57055.

PTM databases

PhosphoSitePlusiP57055.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000183145.
CleanExiHS_DSCR6.
GenevisibleiP57055. HS.

Organism-specific databases

HPAiHPA055541.

Interactioni

Subunit structurei

Interacts with TBX1.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
TRAF2Q129334EBI-12092053,EBI-355744

Protein-protein interaction databases

BioGridi119794. 2 interactors.
IntActiP57055. 4 interactors.
STRINGi9606.ENSP00000331734.

Structurei

3D structure databases

ProteinModelPortaliP57055.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni77 – 112Ripply homology domainAdd BLAST36

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi39 – 42WRPW motif4

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

eggNOGiENOG410J40K. Eukaryota.
ENOG411273W. LUCA.
GeneTreeiENSGT00730000111429.
HOGENOMiHOG000088628.
InParanoidiP57055.
OMAiRGRVCHC.
OrthoDBiEOG091G0W6F.
PhylomeDBiP57055.
TreeFamiTF336045.

Family and domain databases

InterProiView protein in InterPro
IPR028127. Ripply_fam.
PANTHERiPTHR16770. PTHR16770. 1 hit.
PfamiView protein in Pfam
PF14998. Ripply. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0042051 – 84Missing in isoform 2. 1 PublicationAdd BLAST84

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_001304697.1. NM_001317768.1. [P57055-2]
NP_001304706.1. NM_001317777.1. [P57055-2]
NP_061835.1. NM_018962.2. [P57055-1]
UniGeneiHs.254560.

Genome annotation databases

EnsembliENST00000329553; ENSP00000331734; ENSG00000183145. [P57055-1]
GeneIDi53820.
KEGGihsa:53820.
UCSCiuc002yvv.4. human. [P57055-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDSCR6_HUMAN
AccessioniPrimary (citable) accession number: P57055
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: September 27, 2017
This is version 110 of the entry and version 1 of the sequence. See 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