LOCUS       NM_001394669            3362 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens coiled-coil domain containing 57 (CCDC57), transcript
            variant 4, mRNA.
ACCESSION   NM_001394669
VERSION     NM_001394669.1
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 3362)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 3362)
  AUTHORS   Gurkaslar,H.K., Culfa,E., Arslanhan,M.D., Lince-Faria,M. and
            Firat-Karalar,E.N.
  TITLE     CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63
            and Regulates Centriole Duplication and Mitotic Progression
  JOURNAL   Cell Rep 31 (6), 107630 (2020)
   PUBMED   32402286
  REMARK    GeneRIF: CCDC57 Cooperates with Microtubules and Microcephaly
            Protein CEP63 and Regulates Centriole Duplication and Mitotic
            Progression.
REFERENCE   3  (bases 1 to 3362)
  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 3362)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 3362)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 3362)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   7  (bases 1 to 3362)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 3362)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3362)
  AUTHORS   Ozyildirim,A.M., Wistow,G.J., Gao,J., Wang,J., Dickinson,D.P.,
            Frierson,H.F. Jr. and Laurie,G.W.
  TITLE     The lacrimal gland transcriptome is an unusually rich source of
            rare and poorly characterized gene transcripts
  JOURNAL   Invest Ophthalmol Vis Sci 46 (5), 1572-1580 (2005)
   PUBMED   15851553
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132872.17, AC129510.15 and AC135056.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1923254.1,
                                           SRR14038192.2634334.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000694881.1/ ENSP00000511565.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AC132872.17        133235-133292
            59-473              AC132872.17        144125-144539
            474-582             AC132872.17        147655-147763
            583-684             AC132872.17        150713-150814
            685-842             AC132872.17        151938-152095
            843-917             AC132872.17        152247-152321
            918-1118            AC132872.17        157658-157858
            1119-1277           AC129510.15        2210-2368
            1278-1440           AC129510.15        6953-7115
            1441-1572           AC129510.15        7537-7668
            1573-1795           AC129510.15        13282-13504
            1796-1948           AC129510.15        14289-14441
            1949-2106           AC129510.15        22785-22942
            2107-2307           AC129510.15        28194-28394
            2308-2521           AC129510.15        34369-34582
            2522-2643           AC129510.15        51948-52069
            2644-2748           AC135056.4         94856-94960         c
            2749-2965           AC135056.4         94055-94271         c
            2966-3362           AC135056.4         67833-68229         c
FEATURES             Location/Qualifiers
     source          1..3362
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..3362
                     /gene="CCDC57"
                     /note="coiled-coil domain containing 57"
                     /db_xref="GeneID:284001"
                     /db_xref="HGNC:HGNC:27564"
     exon            1..58
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            59..473
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..3150
                     /gene="CCDC57"
                     /EC_number="4.2.1.59"
                     /note="isoform 4 is encoded by transcript variant 4;
                     coiled-coil domain-containing protein 57"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 57 isoform
                     4"
                     /protein_id="NP_001381598.1"
                     /db_xref="CCDS:CCDS92420.1"
                     /db_xref="GeneID:284001"
                     /db_xref="HGNC:HGNC:27564"
                     /translation="MLPLGSEPALNELLLRKEEEWRALQAHRTQLQEAALQDTRSQLE
                     EAQGKLRCLQEDFVYNLQVLEERDLELERYDAAFAQAREWEEARRAEVSELKIEAAKL
                     RQALAREARKVEELQQQQQLAFQEHRLELERVHSDKNGEIDHHREQYENLKWTLERKL
                     EELDGELALQRQELLLEFESKMRKREHEFRLQADNMSNTALSRELKVKLLHKELEALK
                     EAGAKAAESLQRAEATNAELERKLQSRAGELQDLEAMSRARVKDLEDKLHSVQLTRKK
                     EEETFKRKHEELDRLAREKDAVLVAVKGAHVEQLQELQTRVLELQAHCETLEAQLRRA
                     EWRQADTAKEKDAAIDQLREDASTVKSAWDAQIAQLSKEMVSRDLQIQTLQEEEVKLK
                     AQVARSQQDIERYKQQLSLAVERERSLERDQVQLGLDWQRRCDDIERDQIQKSEALIQ
                     GLSMAKSQVAAKLQETEQALQEQEVVLKAVTLERDQAVQALRMHGLPRPGAQMLLRQH
                     EEEISKDFPSSEIQRLREQNTSLRNAIAQMRKEMEALSHQIPPPIQTAAESTDANQPD
                     PEAGGDAATPDYVLALEAEIRTLKHKFKTLEKHLEDVLDPLKMSSPHAESQPSVRTST
                     ETTGGSAQAGQAGGSVQAGQAGGSVQAGPVSSGLALRKLGDRVQLLNLLVTRLRQKVL
                     REPLEPAALQRELPREVDQVHLEVLELRKQVAELGKHLRIAQHGGAEPSGRKQPPASD
                     AVALGREGLTKRGPMEAEDQGELFLHLRSVARAPQTLSMHRLQRKLKEAARKIISLRL
                     EKEQLIEMGNRLRAELGRPERWLLHHALPPAPEARKPGEEPRRPLDRSPPLGQVQPHF
                     TSQDAKSAEDEAPSRHLGKHQPRSAQVGSRLDALQGPKTQHSIHTVTCKSPRQKEDRS
                     PKPPQAPQHPEEHGRQSHSSSSFASGTLQDMWRLLDLGSSPSGVTSQGDSTPELPAPP
                     AADRRPVKMQAGIATPGMKTAAQAKAKTTGASRSHPAKAKGCQRPPKIRNYNIMD"
     exon            474..582
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            583..684
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            685..842
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            843..917
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1118
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1277
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1440
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1572
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..1795
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..1948
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            1949..2106
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            2107..2307
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            2308..2521
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            2522..2643
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            2644..2748
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            2749..2965
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     exon            2966..3362
                     /gene="CCDC57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3338..3343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC57"
                     /note="hexamer: ATTAAA"
     polyA_site      3362
                     /gene="CCDC57"
                     /note="major polyA site"
ORIGIN      
        1 gacccggtcg ctgtggcaac gcggcgggac ctggccagcg ctgctggcgg gcgttaggcg
       61 gccaccatgc tgccactggg ctcagagccc gccctgaatg agctgctgct tcgcaaggag
      121 gaggagtgga gggcgctgca ggcacaccgc acccagctgc aggaggcggc tctgcaggac
      181 acacggagcc agctggagga ggcgcagggg aaactgcggt gcctgcagga ggactttgtc
      241 tacaaccttc aggtgctgga ggagcgggac ctcgagctgg agcgctatga cgccgccttc
      301 gcccaggcca gggagtggga agaggccagg cgggcagagg tgagcgagct caagatagag
      361 gcagctaagc tgaggcaggc gctagccaga gaggccagga aggtggagga gctgcagcag
      421 cagcagcagc tggcattcca ggagcatcgc ctggagctgg agcgcgtcca cagtgacaag
      481 aatggtgaga ttgaccacca ccgggaacag tatgaaaatc taaaatggac actggagaga
      541 aaacttgagg agctcgacgg tgagcttgct ctgcagagac aggaactgct gctggagttt
      601 gaatcgaaaa tgcggaagag ggagcacgaa ttccgtctgc aggctgacaa catgagcaac
      661 acagccttgt cccgggagct taaggttaaa ctactgcaca aagagctgga ggctctgaag
      721 gaagccgggg caaaggctgc agagagtctg cagagggcag aggccaccaa cgccgagctg
      781 gagaggaagc tccagagccg agccggggag ctccaggacc tggaggccat gagccgcgcc
      841 cgggtaaagg atttagagga taaacttcac tctgtgcagc taaccaggaa gaaggaagag
      901 gaaacattta agaggaagca tgaggagctc gaccgtctgg ccagggagaa ggatgcagtg
      961 ctggtggcgg tgaagggagc ccacgtggag cagctgcagg agctgcagac cagggttctg
     1021 gagctgcagg cccactgcga gaccctcgag gcgcagctcc gcagggcaga gtggagacag
     1081 gctgacaccg ccaaggagaa ggacgctgcc attgaccaac ttcgtgaaga tgcatcaact
     1141 gtaaaatctg cctgggatgc tcaaattgct caactatcta aggagatggt ctccagagac
     1201 cttcagattc agacgctgca ggaagaagag gtgaagctca aggcacaggt ggcccgatcc
     1261 cagcaggaca ttgaaaggta caagcaacag ctgtccctgg cagtggaaag ggagcggagc
     1321 ctggagcgtg atcaggtgca gctgggcctg gactggcagc gccgctgtga tgacattgaa
     1381 agggaccaga tccaaaagtc agaggccctg attcagggtc tgagcatggc aaaaagtcag
     1441 gttgctgcca agctgcagga gacagagcag gcgctacagg agcaggaggt ggtgctgaag
     1501 gccgtgaccc tggaacgaga ccaggccgtg caggccctga ggatgcatgg gctccccaga
     1561 ccaggggcac agatgcttct caggcagcat gaagaagaaa taagtaaaga ctttccatcc
     1621 agtgagatcc agcggctccg agagcagaac acgagcttgc gaaacgcgat tgcccagatg
     1681 aggaaagaaa tggaggctct aagccatcag attcctcctc ccatccagac agcggcagag
     1741 agcacagatg caaaccagcc tgacccagag gctgggggag atgccgccac tcctgattat
     1801 gttctggccc ttgaagcaga aatacgaact ctaaagcata agtttaaaac tctggaaaag
     1861 catctagaag atgtgttgga tcctttaaag atgtcctcac ctcatgctga gtctcagccc
     1921 agcgtccgca cctcgacaga gacgactgga gggtctgccc aagctggtca agccggaggg
     1981 tctgtccaag ctggtcaagc aggaggatct gtccaagctg gcccagtatc ctctggactg
     2041 gcactcagga agctcgggga cagagtgcag ctcctaaacc tgctggtgac acgactcaga
     2101 cagaaggtgc tgcgggaacc cctggagccg gccgctctcc agcgtgagct tccccgtgag
     2161 gtggaccagg tacacctgga ggttttggag ctgcggaagc aggtggctga gctggggaag
     2221 catctcagga tagcccagca cgggggagcg gagccttcag gcaggaagca gcccccagcc
     2281 tcggacgccg tggcccttgg gagagagggc ctcaccaaga gagggcctat ggaggccgag
     2341 gaccaggggg agcttttcct gcacctccgg tcagtggcac gtgcccccca gaccttatct
     2401 atgcaccgac tccagagaaa gctgaaggag gcagccagaa aaatcatcag cctccgcctg
     2461 gagaaagagc agctcatcga gatggggaac aggctccgtg cagagctggg ccgacccgaa
     2521 aggtggctgt tgcaccacgc cctccctcct gcccctgagg cccggaagcc aggcgaggag
     2581 cccaggaggc ctttggatcg cagcccacct ttgggacagg tgcagcccca ttttacatct
     2641 caggacgcca agagtgccga ggatgaggct ccttccagac acttgggaaa gcaccagccc
     2701 cgctcagcac aggtgggcag cagacttgac gccctgcaag gcccgaagac acaacacagc
     2761 atccacacgg tgacctgtaa atcacctcgg cagaaagaag acaggtcccc aaagccaccc
     2821 caggctcccc agcaccctga ggagcatggt cgccaatccc acagctcctc ctcctttgcc
     2881 agtggcaccc tccaggacat gtggaggttg ctagacctgg gatccagccc ttctggtgtc
     2941 acctcccagg gtgactcaac tccagagctc ccagctcctc cagcagccga caggaggccc
     3001 gtcaagatgc aggcaggcat tgccacccca gggatgaaga cagcagccca ggcaaaggcc
     3061 aagaccacag gagcctcccg gtctcatcct gcaaaagcta aaggctgcca gaggcccccc
     3121 aagatccgta actacaacat tatggactga cttcctcccc ccaccccgcc ccactaaggg
     3181 gtgctcgggg cctccgcatg gtgcctgtgc tttcacctac gtgttgtggg ggggtgtggg
     3241 cacagcgtgc agggtggagg cagggagctg cagggcaggc tcccaaatgc tgctgaggcg
     3301 accctgctga ctgaaggcct ccctgagcac agggcccatt aaaaccaggt tcctccctgg
     3361 gg
//
