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   24-JAN-2024, entry version 142.
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=4; 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}.
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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; 23.
DR   STRING; 9606.ENSP00000331734; -.
DR   PhosphoSitePlus; P57055; -.
DR   BioMuta; RIPPLY3; -.
DR   DMDM; 9973058; -.
DR   MassIVE; P57055; -.
DR   PaxDb; 9606-ENSP00000331734; -.
DR   PeptideAtlas; P57055; -.
DR   Antibodypedia; 23129; 18 antibodies from 9 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   AGR; HGNC:3047; -.
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; QHTFGSK; -.
DR   OrthoDB; 5266209at2759; -.
DR   PhylomeDB; P57055; -.
DR   TreeFam; TF336045; -.
DR   PathwayCommons; P57055; -.
DR   SignaLink; P57055; -.
DR   BioGRID-ORCS; 53820; 16 hits in 1114 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 male germ line stem cell (sensu Vertebrata) in testis and 45 other cell types or tissues.
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; -; 1.
DR   PANTHER; PTHR16770:SF4; PROTEIN RIPPLY3; 1.
DR   Pfam; PF14998; Ripply; 1.
DR   Genevisible; P57055; HS.
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
//