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P57055 (DSCR6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein ripply3
Alternative name(s):
Down syndrome critical region protein 6
Gene names
Name:RIPPLY3
Synonyms:DSCR6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length190 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

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.

Subunit structure

Interacts with TBX1 By similarity.

Subcellular location

Nucleus By similarity.

Tissue specificity

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

Domain

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 similarities

Belongs to the ripply family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P57055-1)

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.
Isoform 2 (identifier: P57055-2)

Also known as: B; C; D;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 190190Protein ripply3
PRO_0000080020

Regions

Region77 – 11236Ripply homology domain
Motif39 – 424WRPW motif

Natural variations

Alternative sequence1 – 8484Missing in isoform 2.
VSP_004205

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified December 1, 2000. Version 1.
Checksum: BF1C3EBD19375E1E

FASTA19020,368
        10         20         30         40         50         60 
MEPEAAAGAR KARGRGCHCP GDAPWRPPPP RGPESPAPWR PWIQTPGDAE LTRTGRPLEP 

        70         80         90        100        110        120 
RADQHTFGSK GAFGFQHPVR VYLPMSKRQE YLRSSGEQVL ASFPVQATID FYDDESTESA 

       130        140        150        160        170        180 
SEAEEPEEGP PPLHLLPQEV GGRQENGPGG KGRDQGINQG QRSSGGGDHW GEGPLPQGVS 

       190 
SRGGKCSSSK 

« Hide

Isoform 2 (B) (C) (D) [UniParc].

Checksum: 67613F566A2ED34B
Show »

FASTA10611,198

References

[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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB037158 mRNA. Translation: BAA96867.1.
AB037159 mRNA. Translation: BAA96868.1.
AB037160 mRNA. Translation: BAA96869.1.
AB037161 mRNA. Translation: BAA96870.1.
RefSeqNP_061835.1. NM_018962.2.
XP_005261050.1. XM_005260993.1.
UniGeneHs.254560.

3D structure databases

ProteinModelPortalP57055.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteP57055.

Polymorphism databases

DMDM9973058.

Proteomic databases

PaxDbP57055.
PRIDEP57055.

Protocols and materials databases

DNASU53820.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329553; ENSP00000331734; ENSG00000183145. [P57055-1]
GeneID53820.
KEGGhsa:53820.
UCSCuc002yvv.3. human. [P57055-1]

Organism-specific databases

CTD53820.
GeneCardsGC21P038379.
H-InvDBHIX0040841.
HGNCHGNC:3047. RIPPLY3.
HPAHPA055541.
MIM609892. gene.
neXtProtNX_P57055.
PharmGKBPA27499.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42572.
HOGENOMHOG000088628.
InParanoidP57055.
OMAPGGKGRD.
OrthoDBEOG7P8PB1.
PhylomeDBP57055.
TreeFamTF336045.

Gene expression databases

BgeeP57055.
CleanExHS_DSCR6.
GenevestigatorP57055.

Family and domain databases

InterProIPR028127. Ripply_fam.
[Graphical view]
PANTHERPTHR16770. PTHR16770. 1 hit.
PfamPF14998. Ripply. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi53820.
NextBio56124.
PROP57055.
SOURCESearch...

Entry information

Entry nameDSCR6_HUMAN
AccessionPrimary (citable) accession number: P57055
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: March 19, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM