LOCUS       NM_152612               2231 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens coiled-coil domain containing 116 (CCDC116),
            transcript variant 1, mRNA.
ACCESSION   NM_152612
VERSION     NM_152612.3
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 2231)
  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   2  (bases 1 to 2231)
  AUTHORS   Qin,N., Wang,C., Lu,Q., Huang,T., Zhu,M., Wang,L., Yu,F., Huang,M.,
            Jiang,Y., Dai,J., Ma,H., Jin,G., Wu,C., Lin,D., Shen,H. and Hu,Z.
  TITLE     A cis-eQTL genetic variant of the cancer-testis gene CCDC116 is
            associated with risk of multiple cancers
  JOURNAL   Hum Genet 136 (8), 987-997 (2017)
   PUBMED   28653172
  REMARK    GeneRIF: Our results suggest that a slight change in CCDC116
            expression in normal tissues can confer risk to corresponding
            cancers.
REFERENCE   3  (bases 1 to 2231)
  AUTHORS   Firat-Karalar,E.N., Sante,J., Elliott,S. and Stearns,T.
  TITLE     Proteomic analysis of mammalian sperm cells identifies new
            components of the centrosome
  JOURNAL   J Cell Sci 127 (Pt 19), 4128-4133 (2014)
   PUBMED   25074808
REFERENCE   4  (bases 1 to 2231)
  AUTHORS   Tsolakis,A.V., Grimelius,L. and Islam,M.S.
  TITLE     Expression of the coiled coil domain containing protein 116 in the
            pancreatic islets and endocrine pancreatic tumors
  JOURNAL   Islets 4 (5), 349-353 (2012)
   PUBMED   23072936
  REMARK    GeneRIF: The CCDC116 protein is expressed in all islet cell types
            except the glucagon and ghrelin cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000553.1 and BC033499.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152612.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033499.1, ERR279856.2001.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292779.4/ ENSP00000292779.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AP000553.1         36961-36997
            38-2229             BC033499.1         1-2192
            2230-2231           AP000553.1         41529-41530
FEATURES             Location/Qualifiers
     source          1..2231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2231
                     /gene="CCDC116"
                     /note="coiled-coil domain containing 116"
                     /db_xref="GeneID:164592"
                     /db_xref="HGNC:HGNC:26688"
     exon            1..68
                     /gene="CCDC116"
                     /inference="alignment:Splign:2.1.0"
     exon            69..202
                     /gene="CCDC116"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..1972
                     /gene="CCDC116"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 116"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 116
                     isoform 1"
                     /protein_id="NP_689825.2"
                     /db_xref="CCDS:CCDS13791.1"
                     /db_xref="GeneID:164592"
                     /db_xref="HGNC:HGNC:26688"
                     /translation="MARCRHHSGYLADDEASHSMCSARVQLPKKPLVPEMRPACKPGR
                     VPHPPSTCGSSALQGQRRNKRHPQPFGHFLDFLTESQVLDSLETVVEKATERMAAMKT
                     EAGVPLVEVQDPVEVPSGGRRAHARPSLSTVHRHRVRPTLCTGHPNNYPSSSSSMSNC
                     HSSLMAGCLGSHSRDSDLGAQGSLPPVRDKLLLEKNLKRLLQLEREGKGLSQSCSQRD
                     SLLWDSLGSQTSFQWTQEQPLSWFSGLLGSSSGVPEASEPRPGEQEPIFRKREFNKEI
                     KSLLSQLESLDLPGYCPLREPHRTLNFLADHRLFPALQSVVSQAVDKLRGAHCRDGRP
                     LFPTSLEPTSDLPPLGSEPAKPTNGGQPYASPRPTVSSPKMLQRKRKDRGGSPSMSSA
                     QVATRFKLKSPCSSSRFTKKKPLPSISSKSSMSHFSNRLYEELADFLTQQAASLVIRK
                     YEFEKDLSKQLGFFSFPITHVLRDLSLGLKKVKGSRIHLSSETHRSCLLRKLEESKRA
                     RQASRLSTSHCSTETPSVQQEPATHTAQDQATEPCRSLYTNLPASRQLSPLEPKLYMS
                     ACTGMGSSPPKSKDMDNEGRDKAEIEDEDEDEFKDEDQDEDKDEDGV"
     exon            203..751
                     /gene="CCDC116"
                     /inference="alignment:Splign:2.1.0"
     exon            752..1333
                     /gene="CCDC116"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..2231
                     /gene="CCDC116"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2189..2194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC116"
                     /note="hexamer: AATAAA"
     polyA_site      2231
                     /gene="CCDC116"
                     /note="major polyA site"
ORIGIN      
        1 gcactgtgca gctgctccag tgagggcgca gactgtactg gcctgtgcgg agcaaggcgg
       61 tgtttctgag aggaatgcgc agctgaagag agaggtgggc agcaggcccg gtcacctgcc
      121 aggtgaccac atggccaggt gccgccacca ctcgggttac ctggccgatg acgaggccag
      181 ccactccatg tgcagtgcac gggtgcagct gcccaagaag ccactggtcc cagaaatgcg
      241 gccagcctgc aagccgggcc gtgtgccaca cccaccatcc acatgtggca gctcagcact
      301 ccagggccaa cgccgaaaca agaggcaccc tcagcccttt ggccactttc tggatttcct
      361 aactgagagc caggtcctgg acagcctgga gacagtggtg gagaaggcga ctgagcgcat
      421 ggctgccatg aagacggagg ctggggtgcc gcttgtggag gtgcaggacc cagtggaggt
      481 gccaagtggt ggacggcggg cacatgcccg gcccagcctc agcaccgtac accggcaccg
      541 tgtacggccg accctctgca ctggacaccc caacaactac ccatccagct ccagctccat
      601 gtccaactgc catagcagcc tcatggccgg ctgtctgggc tcccacagcc gggacagtga
      661 cctaggtgcc caaggctcat tgccacctgt gagggacaaa ctcctgctgg agaagaacct
      721 caagcggctg ctacagctgg agagggaagg gaaaggcctc agtcagtcct gctcccagag
      781 ggactccctg ctgtgggatt cgctgggtag ccagaccagc tttcagtgga cacaggagca
      841 gcccttgtcc tggttctcag ggctgctggg ctcaagctct ggcgtgcctg aagcatcaga
      901 gccgaggcct ggagaacagg agccaatctt ccgcaagcga gagttcaata aggagatcaa
      961 gtcattactg agccagctgg agtccctcga cctgcctggc tactgtccgc tccgtgagcc
     1021 ccatcgcacg ctgaacttcc tggctgacca ccgcctcttc cctgccctgc aaagcgtggt
     1081 cagccaggct gtggataagc tccgtggcgc ccactgccgc gacggccgtc ctctgttccc
     1141 caccagcttg gagcccacct cagatctgcc gcctctgggc tctgagccag ctaaacccac
     1201 caatggcggg cagccctatg cttccccccg ccccacagtc tccagcccca agatgcttca
     1261 gagaaaacgc aaggacagag gaggctcccc ctccatgtct agtgcccagg tggccaccag
     1321 attcaaactc aagagcccct gcagcagcag caggttcacg aagaagaagc cgctgccctc
     1381 catctcgtcg aagtccagca tgtctcactt ctccaaccgc ctttatgagg agctcgccga
     1441 cttcctgacc cagcaggcag cctccttggt catccgcaag tacgagttcg aaaaggacct
     1501 cagtaagcag ctgggcttct tctccttccc catcacccac gtgctcaggg acctttccct
     1561 gggcttaaag aaggtaaaag gctcccgcat ccacctgtcc tcggagaccc accggagctg
     1621 cctgctgcgt aaactggagg agtccaaaag ggcccggcag gcctcccggc tcagcacctc
     1681 ccactgcagc acagagacac cctctgtgca gcaggaacca gccacccaca ctgcccagga
     1741 ccaggccaca gagccctgcc gctccctcta caccaacttg ccagccagcc ggcagctcag
     1801 ccctttggag cccaagctct acatgtctgc ctgcaccggc atgggttcca gtccccccaa
     1861 gtccaaggac atggacaatg agggccgtga taaagccgag attgaagatg aagatgagga
     1921 tgagttcaag gatgaagacc aggatgagga caaggatgag gatggagtct agagcctccc
     1981 agagcctgga gaggaggcct cggtcagcca ctccgtggac gtgggccacg gtgacccacc
     2041 atgaagtccc cactagccac tcgattccct gctctgtcag agttgctgca catcacacca
     2101 gcccctgcca agagcaggag tcaccacagg ctgaatgccc acgaggagct ctgctgagac
     2161 tctcaaggga gccagtgaaa gaaatagaaa taaagcctgt gttgctggga cacaggtttg
     2221 ctgtcctgag a
//
