LOCUS       NM_018962               2099 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ripply transcriptional repressor 3 (RIPPLY3),
            transcript variant 1, mRNA.
ACCESSION   NM_018962
VERSION     NM_018962.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2099)
  AUTHORS   Viard,J., Loe-Mie,Y., Daudin,R., Khelfaoui,M., Plancon,C.,
            Boland,A., Tejedor,F., Huganir,R.L., Kim,E., Kinoshita,M., Liu,G.,
            Haucke,V., Moncion,T., Yu,E., Hindie,V., Blehaut,H., Mircher,C.,
            Herault,Y., Deleuze,J.F., Rain,J.C., Simonneau,M. and
            Lepagnol-Bestel,A.M.
  TITLE     Chr21 protein-protein interactions: enrichment in proteins involved
            in intellectual disability, autism, and late-onset Alzheimer's
            disease
  JOURNAL   Life Sci Alliance 5 (12), e202101205 (2022)
   PUBMED   35914814
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2099)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2099)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2099)
  AUTHORS   Hong,N., Zhang,E., Wang,Q., Zhang,X., Li,F., Fu,Q., Xu,R., Yu,Y.,
            Chen,S., Xu,Y. and Sun,K.
  TITLE     A loss-of-function mutation p.T52S in RIPPLY3 is a potential
            predisposing genetic risk factor for Chinese Han conotruncal heart
            defect patients without the 22q11.2 deletion/duplication
  JOURNAL   J Transl Med 16 (1), 260 (2018)
   PUBMED   30241482
  REMARK    GeneRIF: deleterious variants in RIPPLY3 are potential molecular
            mechanisms involved in the pathogenesis of human Conotruncal heart
            defect.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2099)
  AUTHORS   Janesick,A., Shiotsugu,J., Taketani,M. and Blumberg,B.
  TITLE     RIPPLY3 is a retinoic acid-inducible repressor required for setting
            the borders of the pre-placodal ectoderm
  JOURNAL   Development 139 (6), 1213-1224 (2012)
   PUBMED   22354841
REFERENCE   6  (bases 1 to 2099)
  AUTHORS   Shibuya,K., Kudoh,J., Minoshima,S., Kawasaki,K., Asakawa,S. and
            Shimizu,N.
  TITLE     Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome
            critical region on human chromosome 21q22.2
  JOURNAL   Biochem Biophys Res Commun 271 (3), 693-698 (2000)
   PUBMED   10814524
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB037158.1 and AP000704.2.
            
            On Nov 23, 2018 this sequence version replaced NM_018962.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB037158.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427, SAMEA2155984
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329553.3/ ENSP00000331734.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1258              AB037158.1         140-1397
            1259-1723           AP000704.2         74745-75209
            1724-2096           AB037158.1         1865-2237
            2097-2099           AP000704.2         75583-75585
FEATURES             Location/Qualifiers
     source          1..2099
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.13"
     gene            1..2099
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /note="ripply transcriptional repressor 3"
                     /db_xref="GeneID:53820"
                     /db_xref="HGNC:HGNC:3047"
                     /db_xref="MIM:609892"
     exon            1..175
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..644
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein ripply3; down syndrome critical region protein 6;
                     Down syndrome critical region gene 6; ripply3 homolog"
                     /codon_start=1
                     /product="protein ripply3 isoform 1"
                     /protein_id="NP_061835.1"
                     /db_xref="CCDS:CCDS13648.1"
                     /db_xref="GeneID:53820"
                     /db_xref="HGNC:HGNC:3047"
                     /db_xref="MIM:609892"
                     /translation="MEPEAAAGARKARGRGCHCPGDAPWRPPPPRGPESPAPWRPWIQ
                     TPGDAELTRTGRPLEPRADQHTFGSKGAFGFQHPVRVYLPMSKRQEYLRSSGEQVLAS
                     FPVQATIDFYDDESTESASEAEEPEEGPPPLHLLPQEVGGRQENGPGGKGRDQGINQG
                     QRSSGGGDHWGEGPLPQGVSSRGGKCSSSK"
     exon            176..242
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            243..310
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            311..2099
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1947..1952
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /note="hexamer: ATTAAA"
     polyA_site      1970
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
     regulatory      2081..2086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /note="hexamer: AATAAA"
     polyA_site      2099
                     /gene="RIPPLY3"
                     /gene_synonym="DSCR6"
                     /note="major polyA site"
ORIGIN      
        1 gttagcccga gtggatctag gcgcgctcgt aggccggcgc cgcagcaagg ggcgcgggct
       61 ccgccggcac catggagccc gaagcggcgg ccggagcccg gaaggcgcgg gggcgcggct
      121 gtcactgccc cggggacgct ccctggaggc ctccgccacc gcgcgggccg gagagccccg
      181 cgccgtggcg accttggatc cagacacctg gagatgctga gctgaccaga actggaaggc
      241 cgcttgaacc tagggctgac caacacactt ttggatcaaa gggagccttt gggtttcagc
      301 atcctgtaag agtctattta cccatgtcaa agcgtcaaga atacctgcgg agttccgggg
      361 agcaagtact ggccagtttc ccagtgcaag ccacgattga cttctacgac gatgagtcta
      421 ctgagtctgc ttccgaagct gaagagccag aggaaggacc cccacccctc catcttctgc
      481 cccaggaggt gggaggtcgg caggaaaatg gcccaggggg aaagggcaga gaccagggca
      541 tcaaccaagg gcagcgatcc tcaggagggg gtgaccactg gggggagggt ccgctccctc
      601 aaggtgtctc ctcaaggggt ggcaagtgct cctcatccaa atgaatcagt ctctgtctcc
      661 tgggccctgc tctgggacct gcccctcacg ttctcttggg gacacccgag ccaggacact
      721 acgcatccct gctgagtgtg cagaggctag aggcttctcg ggcagcccct ggcctgcaca
      781 ctactcatga cagaaagtca gcttttactt ttctttcccc tggcaattcg tttttggtgc
      841 actcatgcat gcctttgaga aaggattcta ggagaaagag aaggtctatg tcaacagagt
      901 tgttatctca tagagccagt tttcaaagct ccttctgcat tgtcactcac tgatcaggtg
      961 atgaattctt cctagatagt cgcccactcc acctcctact taacctgaga ctcattattt
     1021 agctatttct gcttttgtaa aaataattca gatattaaac tccaatttta atctatcatc
     1081 caagggtaga tgtagttgct tagtagcatt ttggaaaaaa aagaaaaaaa ggtttggttt
     1141 ggttttgtga cggagttttg ctcttgtctc ccaggctgga gtgcagtgac acaatctcgg
     1201 ctcactgcaa cctccacttc ttgggttcaa gtgattctcc tgtctcagcc tcccaagtag
     1261 ctgggattac aggcatgagc taccacgcct ggctaatttt ttgtattttt agtagagact
     1321 cggtttcacc atgttggtca ggctggcttt gaactcctga cctcaggtga tccacccgcc
     1381 ttggcctccc aaagtgctgg gattacaggc gtgagccact gagcccggcc aaaaaaaaat
     1441 gtatttatta aaaaaaaatt tttttaaccc gccgaataat tcccataaga gtaacaaaaa
     1501 ggaccagcct gaccaacgtg gagaaactct gtctctacta aaaatacaaa attagccagg
     1561 cgtgatggct catgcctgta atcccagcta ctcgggaggc tgaggcagga gaatggctag
     1621 aacccgggag gcggaggttg ccgtgagtcg agatcgcacc attgcattcc agcctgggca
     1681 acaagagcga aactccgtct caaaaaaaaa aaaaaaaaaa aagaaagaaa agagtaacag
     1741 aaagataggg atttttagga gacaattaga taaaaatgta tgtgatgact gtataaggag
     1801 gcctgtgtgt atgaatttat agggagtaga accgtctctc ttcttagttg gtgactgttt
     1861 ggggcctggt attttaatag atgaacacta cttttttaat tttttatttt tttaacccta
     1921 cccttaaccc atgaacacta tttttaatta aagtatctga tgtaaaatta ttttgagttt
     1981 ttaatatttt gataaacgtg tattcctgaa actttttgac ttacttatct tacatgtggt
     2041 gtcttcctgt atatagtaca ttatatcaat ttctacttga aataaatatt ttgaaagaa
//
