DSCR6_HUMAN
ID DSCR6_HUMAN Reviewed; 190 AA.
AC P57055;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Protein ripply3;
DE AltName: Full=Down syndrome critical region protein 6;
GN Name=RIPPLY3; Synonyms=DSCR6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain, Fetal kidney, Fetal retina, and Fetal testis;
RX PubMed=10814524; DOI=10.1006/bbrc.2000.2685;
RA Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Shimizu N.;
RT "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical
RT region on human chromosome 21q22.2.";
RL Biochem. Biophys. Res. Commun. 271:693-698(2000).
RN [2]
RP IDENTIFICATION AS RIPPLY3.
RX PubMed=16326386; DOI=10.1016/j.devcel.2005.09.021;
RA Kawamura A., Koshida S., Hijikata H., Ohbayashi A., Kondoh H., Takada S.;
RT "Groucho-associated transcriptional repressor ripply1 is required for
RT proper transition from the presomitic mesoderm to somites.";
RL Dev. Cell 9:735-744(2005).
CC -!- FUNCTION: Acts as a transcriptional corepressor. Negative regulator of
CC the transcriptional activity of TBX1. Plays a role in the development
CC of the pharyngeal apparatus and derivatives (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with TBX1. {ECO:0000250}.
CC -!- INTERACTION:
CC P57055; Q8TAP6: CEP76; NbExp=3; IntAct=EBI-12092053, EBI-742887;
CC P57055; Q0VD86: INCA1; NbExp=3; IntAct=EBI-12092053, EBI-6509505;
CC P57055; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-12092053, EBI-348259;
CC P57055; Q13416: ORC2; NbExp=3; IntAct=EBI-12092053, EBI-374957;
CC P57055; P20618: PSMB1; NbExp=3; IntAct=EBI-12092053, EBI-372273;
CC P57055; O43435: TBX1; NbExp=2; IntAct=EBI-12092053, EBI-21460353;
CC P57055; Q96CG3: TIFA; NbExp=3; IntAct=EBI-12092053, EBI-740711;
CC P57055; Q12933: TRAF2; NbExp=3; IntAct=EBI-12092053, EBI-355744;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=A;
CC IsoId=P57055-1; Sequence=Displayed;
CC Name=2; Synonyms=B, C, D;
CC IsoId=P57055-2; Sequence=VSP_004205;
CC -!- TISSUE SPECIFICITY: Expressed at a low level in fetal kidney and fetal
CC brain. {ECO:0000269|PubMed:10814524}.
CC -!- DOMAIN: The Ripply homology domain and the WRPW motif are both
CC necessary for its transcriptional corepressor activity on the
CC transcription activator TBX1. {ECO:0000250}.
CC -!- DOMAIN: The WRPW motif is required for binding to tle/groucho proteins.
CC {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the ripply family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB037158; BAA96867.1; -; mRNA.
DR EMBL; AB037159; BAA96868.1; -; mRNA.
DR EMBL; AB037160; BAA96869.1; -; mRNA.
DR EMBL; AB037161; BAA96870.1; -; mRNA.
DR CCDS; CCDS13648.1; -. [P57055-1]
DR RefSeq; NP_001304697.1; NM_001317768.1. [P57055-2]
DR RefSeq; NP_001304706.1; NM_001317777.1. [P57055-2]
DR RefSeq; NP_061835.1; NM_018962.2. [P57055-1]
DR AlphaFoldDB; P57055; -.
DR BioGRID; 119794; 101.
DR IntAct; P57055; 8.
DR STRING; 9606.ENSP00000331734; -.
DR PhosphoSitePlus; P57055; -.
DR BioMuta; RIPPLY3; -.
DR DMDM; 9973058; -.
DR MassIVE; P57055; -.
DR PaxDb; P57055; -.
DR PeptideAtlas; P57055; -.
DR PRIDE; P57055; -.
DR Antibodypedia; 23129; 15 antibodies from 8 providers.
DR DNASU; 53820; -.
DR Ensembl; ENST00000329553.3; ENSP00000331734.2; ENSG00000183145.9. [P57055-1]
DR GeneID; 53820; -.
DR KEGG; hsa:53820; -.
DR MANE-Select; ENST00000329553.3; ENSP00000331734.2; NM_018962.3; NP_061835.1.
DR UCSC; uc002yvv.4; human. [P57055-1]
DR CTD; 53820; -.
DR DisGeNET; 53820; -.
DR GeneCards; RIPPLY3; -.
DR HGNC; HGNC:3047; RIPPLY3.
DR HPA; ENSG00000183145; Not detected.
DR MIM; 609892; gene.
DR neXtProt; NX_P57055; -.
DR OpenTargets; ENSG00000183145; -.
DR PharmGKB; PA27499; -.
DR VEuPathDB; HostDB:ENSG00000183145; -.
DR eggNOG; ENOG502S482; Eukaryota.
DR GeneTree; ENSGT00730000111429; -.
DR HOGENOM; CLU_127183_0_0_1; -.
DR InParanoid; P57055; -.
DR OMA; RGRVCHC; -.
DR OrthoDB; 1549120at2759; -.
DR PhylomeDB; P57055; -.
DR TreeFam; TF336045; -.
DR PathwayCommons; P57055; -.
DR SignaLink; P57055; -.
DR BioGRID-ORCS; 53820; 15 hits in 1038 CRISPR screens.
DR ChiTaRS; RIPPLY3; human.
DR GenomeRNAi; 53820; -.
DR Pharos; P57055; Tdark.
DR PRO; PR:P57055; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P57055; protein.
DR Bgee; ENSG00000183145; Expressed in corpus epididymis and 44 other tissues.
DR Genevisible; P57055; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0008283; P:cell population proliferation; IEA:Ensembl.
DR GO; GO:0009880; P:embryonic pattern specification; IBA:GO_Central.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060037; P:pharyngeal system development; IEA:Ensembl.
DR InterPro; IPR028127; Ripply_fam.
DR PANTHER; PTHR16770; PTHR16770; 1.
DR Pfam; PF14998; Ripply; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Nucleus; Reference proteome;
KW Repressor; Transcription; Transcription regulation.
FT CHAIN 1..190
FT /note="Protein ripply3"
FT /id="PRO_0000080020"
FT REGION 1..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 77..112
FT /note="Ripply homology domain"
FT REGION 110..190
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 39..42
FT /note="WRPW motif"
FT COMPBIAS 1..17
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 22..40
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..84
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10814524"
FT /id="VSP_004205"
SQ SEQUENCE 190 AA; 20368 MW; BF1C3EBD19375E1E CRC64;
MEPEAAAGAR KARGRGCHCP GDAPWRPPPP RGPESPAPWR PWIQTPGDAE LTRTGRPLEP
RADQHTFGSK GAFGFQHPVR VYLPMSKRQE YLRSSGEQVL ASFPVQATID FYDDESTESA
SEAEEPEEGP PPLHLLPQEV GGRQENGPGG KGRDQGINQG QRSSGGGDHW GEGPLPQGVS
SRGGKCSSSK
