LOCUS       NM_032040               3236 bp    mRNA    linear   PRI 18-MAR-2025
DEFINITION  Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.
ACCESSION   NM_032040
VERSION     NM_032040.5
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 3236)
  AUTHORS   Zhang,L., Ren,D., Hu,X., Sun,J., Qi,C., Wang,Y., Lu,L. and Wei,M.
  TITLE     Establishment of the 3M syndrome animal model in CCDC8 knockout
            mice
  JOURNAL   Mol Biomed 4 (1), 24 (2023)
   PUBMED   37574524
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3236)
  AUTHORS   Isik,E., Arican,D., Atik,T., Ooi,J.E., Darcan,S., Ozen,S., Simsek
            Kiper,P.O., Utine,E., Cogulu,O. and Ozkinay,F.
  TITLE     A rare cause of syndromic short stature: 3M syndrome in three
            families
  JOURNAL   Am J Med Genet A 185 (2), 461-468 (2021)
   PUBMED   33258289
  REMARK    GeneRIF: A rare cause of syndromic short stature: 3M syndrome in
            three families.
REFERENCE   3  (bases 1 to 3236)
  AUTHORS   Jiang,X., Jia,X., Sun,J., Qi,C., Lu,L., Wang,Y., Zhang,L. and
            Wei,M.
  TITLE     Overexpressed coiled-coil domain containing protein 8 (CCDC8)
            mediates newly synthesized HIV-1 Gag lysosomal degradation
  JOURNAL   Sci Rep 10 (1), 11416 (2020)
   PUBMED   32651437
  REMARK    GeneRIF: Overexpressed coiled-coil domain containing protein 8
            (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3236)
  AUTHORS   Yang,C.K., Yu,T.D., Han,C.Y., Qin,W., Liao,X.W., Yu,L., Liu,X.G.,
            Zhu,G.Z., Su,H., Lu,S.C., Chen,Z.W., Liu,Z., Huang,K.T., Liu,Z.T.,
            Liang,Y., Huang,J.L., Mo,Z.N., Qin,X., Li,L., Xiao,K.Y., Peng,M.H.,
            Winkle,C.A., O'Brien,S.J. and Peng,T.
  TITLE     Genome-Wide Association Study of MKI67 Expression and its Clinical
            Implications in HBV-Related Hepatocellular Carcinoma in Southern
            China
  JOURNAL   Cell Physiol Biochem 42 (4), 1342-1357 (2017)
   PUBMED   28700999
  REMARK    GeneRIF: Variants near TTN and CCDC8 were associated with KI67
            expression, and rs2288563 and rs2562832 in TTN are potential
            biomarkers for the prediction of clinical outcomes in hepatitis
            B-related hepatocellular carcinoma patients.
REFERENCE   5  (bases 1 to 3236)
  AUTHORS   Hanson,D., Murray,P.G., Coulson,T., Sud,A., Omokanye,A.,
            Stratta,E., Sakhinia,F., Bonshek,C., Wilson,L.C., Wakeling,E.,
            Temtamy,S.A., Aglan,M., Rosser,E.M., Mansour,S., Carcavilla,A.,
            Nampoothiri,S., Khan,W.I., Banerjee,I., Chandler,K.E., Black,G.C.
            and Clayton,P.E.
  TITLE     Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to
            disordered growth factor signalling
  JOURNAL   J Mol Endocrinol 49 (3), 267-275 (2012)
   PUBMED   23018678
  REMARK    GeneRIF: Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to
            disordered growth factor signalling.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3236)
  AUTHORS   Dai,C., Tang,Y., Jung,S.Y., Qin,J., Aaronson,S.A. and Gu,W.
  TITLE     Differential effects on p53-mediated cell cycle arrest vs.
            apoptosis by p90
  JOURNAL   Proc Natl Acad Sci U S A 108 (47), 18937-18942 (2011)
   PUBMED   22084066
  REMARK    GeneRIF: p90 is a critical cofactor for p53-mediated apoptosis
            through promoting Tip60-mediated p53 acetylation.
REFERENCE   7  (bases 1 to 3236)
  AUTHORS   Hanson,D., Murray,P.G., O'Sullivan,J., Urquhart,J., Daly,S.,
            Bhaskar,S.S., Biesecker,L.G., Skae,M., Smith,C., Cole,T., Kirk,J.,
            Chandler,K., Kingston,H., Donnai,D., Clayton,P.E. and Black,G.C.
  TITLE     Exome sequencing identifies CCDC8 mutations in 3-M syndrome,
            suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1
            to control human growth
  JOURNAL   Am J Hum Genet 89 (1), 148-153 (2011)
   PUBMED   21737058
  REMARK    GeneRIF: We propose that CUL7, OBSL1, and CCDC8 are members of a
            pathway controlling mammalian growth.
REFERENCE   8  (bases 1 to 3236)
  AUTHORS   Hanson,D., Murray,P.G., Black,G.C. and Clayton,P.E.
  TITLE     The genetics of 3-M syndrome: unravelling a potential new
            regulatory growth pathway
  JOURNAL   Horm Res Paediatr 76 (6), 369-378 (2011)
   PUBMED   22156540
  REMARK    GeneRIF: discussion of roles of CCDC8, CUL7 (cullin 7), and OBSL1
            (obscurin-like 1) in growth and development using findings from
            patients with Miller-McKusick-Malvaux syndrome and Silver-Russell
            syndrome [REVIEW]
            Review article
REFERENCE   9  (bases 1 to 3236)
  AUTHORS   Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
            Nicolaescu,E., Lesage,B. and Bollen,M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   10 (bases 1 to 3236)
  AUTHORS   Akilapa,R., Irving,M. and Holder-Espinasse,M.
  TITLE     3-M Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301654
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from JN703457.1, BC025243.1,
            AL136609.1 and AI301367.1.
            
            On Jul 27, 2018 this sequence version replaced NM_032040.4.
            
            Summary: This gene encodes a coiled-coil domain-containing protein.
            The encoded protein functions as a cofactor required for
            p53-mediated apoptosis following DNA damage, and may also play a
            role in growth through interactions with the cytoskeletal adaptor
            protein obscurin-like 1. Mutations in this gene are a cause of 3M
            syndrome-3 (3M3). [provided by RefSeq, Dec 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: JN703457.1, AL136609.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307522.5/ ENSP00000303158.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-531               JN703457.1         21-551
            532-2708            BC025243.1         1-2177
            2709-2709           AL136609.1         2733-2733
            2710-3193           BC025243.1         2178-2661
            3194-3236           AI301367.1         3-45                c
FEATURES             Location/Qualifiers
     source          1..3236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..3236
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
                     /note="coiled-coil domain containing 8"
                     /db_xref="GeneID:83987"
                     /db_xref="HGNC:HGNC:25367"
                     /db_xref="MIM:614145"
     exon            1..3236
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
                     /inference="alignment:Splign:2.1.0"
     CDS             755..2371
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
                     /note="protein phosphatase 1, regulatory subunit 20"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 8"
                     /protein_id="NP_114429.2"
                     /db_xref="CCDS:CCDS12685.1"
                     /db_xref="GeneID:83987"
                     /db_xref="HGNC:HGNC:25367"
                     /db_xref="MIM:614145"
                     /translation="MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQF
                     LEEEGRTLEDVARIMEKSTPHPPQPPKKPKEPRVRRRVQQMVTPPPRLVVGTYDSSNA
                     SDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQ
                     EKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAG
                     PGVGEARLASTAVESAGVSSAPEGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRR
                     RRKEQTAPTGQGADIEADQGGEAADSQREEAIADQREGAAGNQRAGAPADQGAEAADN
                     QREEAADNQRAGAPAEEGAEAADNQREEAADNQRAEAPADQRSQGTDNHREEAADNQR
                     AEAPADQGSEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPG
                     IQEAEVSAAQGTTGTAPGARARKQVKTVRFQTPGRFSWFCKRRRAFWHTPRLPTLPKR
                     VPRAGEARNLRVLRAEARAEAEQGEQEDQL"
     regulatory      2742..2747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
                     /note="hexamer: AAGAAA"
     polyA_site      2760
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
                     /note="major polyA site"
     regulatory      3164..3169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
                     /note="hexamer: AGTAAA"
     polyA_site      3193
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
                     /note="major polyA site"
     polyA_site      3236
                     /gene="CCDC8"
                     /gene_synonym="3M3; p90; PPP1R20"
ORIGIN      
        1 gcagagctct aagcgcgcgg gctggcaggc tgcggcgcgt caaggtcagc ctggagctgg
       61 gtggcggcct gcctgggggc gggggaccct actggaggcc cgggctgggg cctcccagcg
      121 cctcggccat attgaatagc ttcgactgga ccgtctttgt ctgcgaagtc ctgtcccaag
      181 ttccagccgc gtccctgggg cctggggcag gaagagtcgc tggcagcccg cgcgccccaa
      241 cttggagctg ggacaccacg tttccagctt ggagtgggcc ttgagccttg ggactgacct
      301 cgcccccggc tcacgtaggc atcctggaaa ttgattcccc caagtccttg gtgggggagc
      361 cggacttggt caagactgta cttgttgcag gcgaagagat tggaggcgtt tggctcgtcc
      421 ctggctaggg aggtgagact ctccggtcag cgttgctgga actcccccca tccagtccct
      481 ccctcaagac taagggctac agtagtttgt tggggctcat tgccccctca ccccagatat
      541 caccctggag atcttaaaga ctctcgagaa aagccacgtg gggggctggt tcccctgggg
      601 cttcctgccg tcccccgact gcctcattct ttggagcgtc cccgatgtct gcaaagatgt
      661 ggatttggac gtcctcgtgg aagccctaaa gcccgtgggg acatttaaga agatcggcaa
      721 ggtgttccgc aaggaggagg actccacggt ggggatgctg cagatcgggg aggacgtcga
      781 ctatttgctc atcccccggg aggtcaggct ggctgggggc gtctggagag tcatctctaa
      841 gcccgccacc aaggaagcag aatttcggga gcggctgacc cagttcctgg aagaagaggg
      901 ccgcaccctg gaggacgtgg cccgcatcat ggagaagagc accccgcacc cgccccagcc
      961 ccccaaaaag cccaaggagc cccgagtgag gaggagagtg cagcagatgg tgactcctcc
     1021 gccccggctg gtcgtgggca cgtacgacag cagcaacgcc agcgacagcg agttcagcga
     1081 cttcgagacc tccagagaca agagccgcca gggcccgcgg cggggcaaga aggtgcgcaa
     1141 aatgcccgtc agctacctgg gcagcaagtt cctgggaagc gacctggaga gtgaggatga
     1201 tgaggaactg gtcgaggcct tcctccggcg acaggagaag cagcccagcg cgccgcctgc
     1261 ccgccgccgc gtcaacctgc cagtgcccat gtttgaggac aacctggggc ctcagctgtc
     1321 caaagcggac aggtggcggg agtatgtcag ccaggtgtcc tgggggaagc tgaagcggag
     1381 ggtgaagggt tgggcgccga gggcgggccc cggggtgggc gaggcccggc tggcctccac
     1441 cgcagtggag agcgcagggg tatcatcggc gccagagggc accagcccgg gggatcgctt
     1501 gggaaacgcg ggagatgttt gtgtgcccca ggcttcccct aggcgatgga ggcccaagat
     1561 caactgggcc tcctttcggc gccgcaggaa ggagcagaca gcacccacag gtcagggggc
     1621 agacatcgag gctgatcagg ggggagaggc tgcagatagt caaagggaag aggccatagc
     1681 tgaccagcgg gaaggggctg caggtaatca gagggcaggg gccccagctg accagggggc
     1741 agaggctgca gataatcaga gggaagaggc tgcagataat cagagggcag gggccccagc
     1801 tgaggagggg gcagaggctg cagataacca gagggaagag gctgcagata atcagagggc
     1861 agaggcccca gctgaccaga ggtcacaggg cacagataac cacagggaag aggctgcaga
     1921 taatcagagg gcggaggccc cagctgacca ggggtcagag gttacagata atcaaaggga
     1981 agaggccgta catgaccaga gggaaagggc cccagctgtc cagggtgcag ataatcagag
     2041 ggcacaggcc cgggctggcc agagggcaga ggctgcacat aatcagaggg caggggcccc
     2101 aggtatccag gaagctgaag tctcagctgc ccaagggacc acaggaacag ctccaggagc
     2161 cagggcccgg aaacaggtca agacagtgag gttccagacc cctggacgct tttcgtggtt
     2221 ttgcaagcgc cggagagcct tctggcacac tccccggttg ccaaccctgc ccaagagagt
     2281 ccccagggca ggagaggcca ggaacctcag ggtgctgagg gccgaggcca gagcagaagc
     2341 tgagcaggga gagcaagaag accagctgtg aggtgagggc tagagacagc ccacgggccc
     2401 tccctccaag tgtgggaggg agagatgctc tgcctctgaa cttcaaagtg gaggtggagt
     2461 gctggccacg tctccaccta acaaccctct ttattctctt gttaaagttt tgttcatgct
     2521 ttgatttttt tttaaatttt ttagagacag ggtctcactc tgttgcccag gctggagtgc
     2581 agtggcatga tcataactca ctgcagcctc aaacttctgg cctcaagtga tcctcctgcc
     2641 tcggcctccc aaaatgctgg gattacagat gtgagccacc acacacacca tctgattaaa
     2701 aaaaaaaaat actgattcct tgtagcaacc caaaaaatgt aaagaaagaa ttcgacacaa
     2761 tggggttgcg tcacctatag ttttcatttc ctcaaatgca actcaaggtg ctcagcttga
     2821 taaagggaga gagggagggc aggggagaaa ctgactcctt tttccatctc ttttttgcct
     2881 gcacacttaa tgtggactgc ctccttggac ttaaaaagag ttgagccaac atgcaaatca
     2941 aaaaacattt atgaactgat ttcttagctt tggacttgac aactgacgaa tgctctgggg
     3001 gtgacctggc ccttgctgtc cgttccactc ccatccttga tgatggagac acctgtgttt
     3061 atgttgtcac ttcgcttgcc atcctcatgc cccgggctct gctggtttgg aggggacagg
     3121 gcccttggtt tgcacacctc acccgatctt ggttataagg tacagtaaaa gcgtctgaaa
     3181 aatgcattca aaacacagat tctggggccc tcggcaccag aggtgtggat ttgcta
//
