LOCUS       NM_001378030            1585 bp    mRNA    linear   PRI 18-MAR-2025
DEFINITION  Homo sapiens coiled-coil domain containing 78 (CCDC78), transcript
            variant 3, mRNA.
ACCESSION   NM_001378030
VERSION     NM_001378030.1
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 1585)
  AUTHORS   Lopergolo,D., Gallus,G.N., Pieraccini,G., Boscaro,F., Berti,G.,
            Serni,G., Volpi,N., Formichi,P., Bianchi,S., Cassandrini,D.,
            Sorrentino,V., Rossi,D., Santorelli,F.M., De Stefano,N. and
            Malandrini,A.
  TITLE     CCDC78: Unveiling the Function of a Novel Gene Associated with
            Hereditary Myopathy
  JOURNAL   Cells 13 (17), 1504 (2024)
   PUBMED   39273074
  REMARK    GeneRIF: CCDC78: Unveiling the Function of a Novel Gene Associated
            with Hereditary Myopathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1585)
  AUTHORS   Mohar,N.P., Cox,E.M., Adelizzi,E., Moore,S.A., Mathews,K.D.,
            Darbro,B.W. and Wallrath,L.L.
  TITLE     The Influence of a Genetic Variant in CCDC78 on LMNA-Associated
            Skeletal Muscle Disease
  JOURNAL   Int J Mol Sci 25 (9), 4930 (2024)
   PUBMED   38732148
  REMARK    GeneRIF: The Influence of a Genetic Variant in CCDC78 on
            LMNA-Associated Skeletal Muscle Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1585)
  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 1585)
  AUTHORS   Klos Dehring,D.A., Vladar,E.K., Werner,M.E., Mitchell,J.W.,
            Hwang,P. and Mitchell,B.J.
  TITLE     Deuterosome-mediated centriole biogenesis
  JOURNAL   Dev Cell 27 (1), 103-112 (2013)
   PUBMED   24075808
REFERENCE   5  (bases 1 to 1585)
  AUTHORS   Majczenko,K., Davidson,A.E., Camelo-Piragua,S., Agrawal,P.B.,
            Manfready,R.A., Li,X., Joshi,S., Xu,J., Peng,W., Beggs,A.H.,
            Li,J.Z., Burmeister,M. and Dowling,J.J.
  TITLE     Dominant mutation of CCDC78 in a unique congenital myopathy with
            prominent internal nuclei and atypical cores
  JOURNAL   Am J Hum Genet 91 (2), 365-371 (2012)
   PUBMED   22818856
  REMARK    GeneRIF: Dominant mutation of CCDC78 in a unique congenital
            myopathy with prominent internal nuclei and atypical cores.
REFERENCE   6  (bases 1 to 1585)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1585)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z98258.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2158569
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345165.10/ ENSP00000316851.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-136               Z98258.1           7974-8109           c
            137-256             Z98258.1           7632-7751           c
            257-343             Z98258.1           7460-7546           c
            344-511             Z98258.1           7079-7246           c
            512-568             Z98258.1           6903-6959           c
            569-636             Z98258.1           6744-6811           c
            637-715             Z98258.1           6577-6655           c
            716-841             Z98258.1           6347-6472           c
            842-1029            Z98258.1           5988-6175           c
            1030-1129           Z98258.1           5772-5871           c
            1130-1209           Z98258.1           5523-5602           c
            1210-1276           Z98258.1           4761-4827           c
            1277-1377           Z98258.1           4588-4688           c
            1378-1585           Z98258.1           4248-4455           c
FEATURES             Location/Qualifiers
     source          1..1585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1585
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /note="coiled-coil domain containing 78"
                     /db_xref="GeneID:124093"
                     /db_xref="HGNC:HGNC:14153"
                     /db_xref="MIM:614666"
     exon            1..136
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1489
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /note="isoform 3 is encoded by transcript variant 3;
                     coiled-coil domain-containing protein 78; sarcoplasmin"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 78 isoform
                     3"
                     /protein_id="NP_001364959.1"
                     /db_xref="CCDS:CCDS92076.1"
                     /db_xref="GeneID:124093"
                     /db_xref="HGNC:HGNC:14153"
                     /db_xref="MIM:614666"
                     /translation="MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLE
                     AEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELEL
                     RGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
                     LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSC
                     QGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEA
                     TLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDL
                     EPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKL
                     RDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGD
                     PWKVGAVPPAKPQHPRTGSH"
     exon            137..256
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            257..343
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            344..511
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            512..568
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            569..636
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            637..715
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            716..841
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            842..1029
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1129
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1209
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1276
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1377
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     exon            1378..1585
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1558..1563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /note="hexamer: CATAAA"
     polyA_site      1585
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /note="major polyA site"
ORIGIN      
        1 agtggcagca gcagccatgg ggaagccggg cgtggaggca gcaccgggct cggagctggc
       61 cagggttccc tagcctatgg agcacgcagc caccacaggc cccaggcctg gacctccctc
      121 tcggcgggtg gagaatgttg tgctacgagc caaggactgg ctgccaggag ctcctggggg
      181 caccgcagtg tgggccacca gcttggaagc agaggtccca ccagatctag cgctcaataa
      241 ggagcagcag ctgcagatct ccaaggagct ggtcgacatt cagatcacaa cccaccacct
      301 acatgagcag catgaggctg aaatcttcca gctgaagagt gagatccttc ggctggagag
      361 ccgggtactg gagctggagc tgcgaggaga tggcaccagc cagggctgtg cagtcccagt
      421 ggagtctgac cccaggcatc cccgggcagc agcccaagag ctcagacaca aagcccaggt
      481 gcctggacac tctgatgacc acagattcca ggtgcagccc aagaacacca tgaaccccga
      541 gaatgagcag cacaggctgg ggagcggcct gcagggggaa gtgaagtggg cgctggagca
      601 tcaggaggcc cggcagcagg cactggtgac gcgtgtggca accctgggcc ggcagctgca
      661 gggagcccga gaggaggcca gggcagccgg gcagcgactg gccacacagg ctgtggtgct
      721 gtgcagctgc caaggccagc tccgtcaggc agaggctgaa aatgcccggc tgcagctgca
      781 gctcaagaaa ctgaaggatg agtacgtcct acggctgcaa cactgcgcct ggcaggcagt
      841 ggagcacgca gatggtgcag gccaagcgcc agccaccacg gccctccgga cattcctgga
      901 ggcgactctg gaggacatcc gggcagcgca ccgcagccgt gagcagcagc tggcccgggc
      961 tgcccgcagc taccacaaga ggctggtgga tctgagccgc aggcatgaag agctactggt
     1021 tgcctacagg gcacctggga acccccaagc tatttttgac atagccagct tggacctgga
     1081 accattgccc gtgcccctgg tcactgactt cagccatcgg gaggaccagc acggcgggcc
     1141 tggggcactg ctctcatccc caaaaaagag acccggtgga gcctcccagg ggggaacatc
     1201 agagccacag ggcctggacg ctgcatcctg ggcccagatc caccagaagc tccgggactt
     1261 ctcccgcagc acccaggcag agctggaacg ggagcgggca cagctgctgg tccgggccac
     1321 gatggctgaa gagcaacttt ctgagctaca ggagtacgtg gaccagcacc tgggcaggta
     1381 caagcacgaa atcctgaggc tgaggaagct ggcaggtgca ggggacccct ggaaagtggg
     1441 ggctgtgcct ccagccaagc cccagcatcc aaggaccggc agccactagg ccgtctccca
     1501 aggagcagag cagagcagag ctcctcagcc agcacagaac cctcccaccc agccccccat
     1561 aaaacatgag tcaggataga accca
//
