DSCR6_MOUSE
ID DSCR6_MOUSE Reviewed; 152 AA.
AC Q924S9; B8JK62; Q8BYB3;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2012, sequence version 2.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Protein ripply3;
DE AltName: Full=Down syndrome critical region protein 6;
GN Name=Ripply3; Synonyms=Dscr6;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1] {ECO:0000312|EMBL:BAB60891.1}
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Embryo {ECO:0000312|EMBL:BAB60891.1};
RA Shibuya K., Kudoh J., Takahashi M., Minoshima S., Shimizu N.;
RT "Isolation of Dscr6 cDNA, mouse homolog of Human Down syndrome critical
RT region gene 6, DSCR6.";
RL Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000312|EMBL:BAC30916.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:BAC30916.1}, and
RC NOD {ECO:0000312|EMBL:BAE43004.1};
RC TISSUE=Spleen {ECO:0000312|EMBL:BAE43004.1}, and
RC Thymus {ECO:0000312|EMBL:BAC30916.1};
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4] {ECO:0000312|EMBL:AAH60291.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Jaw {ECO:0000312|EMBL:AAH60291.1}, and
RC Limb {ECO:0000312|EMBL:AAH60291.1};
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5] {ECO:0000305}
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).
RN [6]
RP FUNCTION, INTERACTION WITH TBX1, DISRUPTION PHENOTYPE, AND DEVELOPMENTAL
RP STAGE.
RX PubMed=21177346; DOI=10.1242/dev.054056;
RA Okubo T., Kawamura A., Takahashi J., Yagi H., Morishima M., Matsuoka R.,
RA Takada S.;
RT "Ripply3, a Tbx1 repressor, is required for development of the pharyngeal
RT apparatus and its derivatives in mice.";
RL Development 138:339-348(2011).
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.
CC {ECO:0000269|PubMed:21177346}.
CC -!- SUBUNIT: Interacts with TBX1. {ECO:0000269|PubMed:21177346}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q2WG80}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the endoderm and ectoderm cells of
CC the caudal pharyngeal region at 8.5 dpc. {ECO:0000269|PubMed:21177346}.
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.
CC -!- DOMAIN: The WRPW motif is required for binding to tle/groucho proteins.
CC {ECO:0000250|UniProtKB:Q2WG80}.
CC -!- DISRUPTION PHENOTYPE: Mice are viable, fertile and morphologically
CC normal. Show abnormal development of pharyngeal derivatives, including
CC ectopic formation of the thymus and the parathyroid gland, as well as
CC cardiovascular malformation. {ECO:0000269|PubMed:21177346}.
CC -!- SIMILARITY: Belongs to the ripply family. {ECO:0000305}.
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DR EMBL; AB063284; BAB60891.1; -; mRNA.
DR EMBL; AK041355; BAC30916.1; -; mRNA.
DR EMBL; AK172430; BAE43004.1; -; mRNA.
DR EMBL; CT573086; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC060291; AAH60291.1; -; mRNA.
DR CCDS; CCDS28347.1; -.
DR RefSeq; NP_573492.2; NM_133229.2.
DR AlphaFoldDB; Q924S9; -.
DR STRING; 10090.ENSMUSP00000023660; -.
DR iPTMnet; Q924S9; -.
DR PhosphoSitePlus; Q924S9; -.
DR PaxDb; Q924S9; -.
DR PRIDE; Q924S9; -.
DR ProteomicsDB; 277410; -.
DR Antibodypedia; 23129; 15 antibodies from 8 providers.
DR DNASU; 170765; -.
DR Ensembl; ENSMUST00000023660; ENSMUSP00000023660; ENSMUSG00000022941.
DR GeneID; 170765; -.
DR KEGG; mmu:170765; -.
DR UCSC; uc008aaj.2; mouse.
DR CTD; 53820; -.
DR MGI; MGI:2181192; Ripply3.
DR VEuPathDB; HostDB:ENSMUSG00000022941; -.
DR eggNOG; ENOG502S482; Eukaryota.
DR GeneTree; ENSGT00730000111429; -.
DR HOGENOM; CLU_127183_1_0_1; -.
DR InParanoid; Q924S9; -.
DR OMA; RGRVCHC; -.
DR OrthoDB; 1549120at2759; -.
DR PhylomeDB; Q924S9; -.
DR TreeFam; TF336045; -.
DR BioGRID-ORCS; 170765; 1 hit in 73 CRISPR screens.
DR ChiTaRS; Ripply3; mouse.
DR PRO; PR:Q924S9; -.
DR Proteomes; UP000000589; Chromosome 16.
DR RNAct; Q924S9; protein.
DR Bgee; ENSMUSG00000022941; Expressed in interventricular septum and 151 other tissues.
DR Genevisible; Q924S9; MM.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR GO; GO:0009880; P:embryonic pattern specification; IBA:GO_Central.
DR GO; GO:0007507; P:heart development; IMP:UniProtKB.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IMP:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0060037; P:pharyngeal system development; IMP:UniProtKB.
DR InterPro; IPR028127; Ripply_fam.
DR PANTHER; PTHR16770; PTHR16770; 1.
DR Pfam; PF14998; Ripply; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..152
FT /note="Protein ripply3"
FT /id="PRO_0000307763"
FT REGION 1..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 79..114
FT /note="Ripply homology domain"
FT /evidence="ECO:0000255"
FT REGION 113..152
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 40..43
FT /note="WRPW motif"
FT /evidence="ECO:0000255"
FT COMPBIAS 1..19
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 30..46
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 71
FT /note="S -> A (in Ref. 1; BAB60891, 2; BAE43004 and 4;
FT AAH60291)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 152 AA; 16965 MW; 58A7BA133ECA11B2 CRC64;
MRPEAAGVRE ARGRLCHCPG DDPGRLPLPR GPESSIPAPW RPWMSPPPGD AELTRTERPC
ESWGDQHTSG SKGAFGFQHP VRLYLPVSKR QEYLQSSGEK VLASFPVQAT IHFYNDDSES
GSEEEQEEEA QPNHLQCLEA EVRDSAQEER AE
