LOCUS       NM_001163321            3467 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens coiled-coil domain containing 120 (CCDC120),
            transcript variant 1, mRNA.
ACCESSION   NM_001163321
VERSION     NM_001163321.4
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 3467)
  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   2  (bases 1 to 3467)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3467)
  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 3467)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 3467)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 3467)
  AUTHORS   Huang,N., Xia,Y., Zhang,D., Wang,S., Bao,Y., He,R., Teng,J. and
            Chen,J.
  TITLE     Hierarchical assembly of centriole subdistal appendages via
            centrosome binding proteins CCDC120 and CCDC68
  JOURNAL   Nat Commun 8, 15057 (2017)
   PUBMED   28422092
  REMARK    GeneRIF: centrosome-binding proteins, coiled-coil domain containing
            (CCDC) 120 and CCDC68 are two novel subdistal appendages (SDA)
            components required for hierarchical SDA assembly in human cells.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3467)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3467)
  AUTHORS   Torii,T., Miyamoto,Y., Tago,K., Sango,K., Nakamura,K., Sanbe,A.,
            Tanoue,A. and Yamauchi,J.
  TITLE     Arf6 guanine nucleotide exchange factor cytohesin-2 binds to
            CCDC120 and is transported along neurites to mediate neurite growth
  JOURNAL   J Biol Chem 289 (49), 33887-33903 (2014)
   PUBMED   25326380
  REMARK    GeneRIF: Arf6 guanine nucleotide exchange factor cytohesin-2 binds
            to CCDC120 and is transported along neurites to mediate neurite
            growth.
REFERENCE   9  (bases 1 to 3467)
  AUTHORS   Xin,X., Rual,J.F., Hirozane-Kishikawa,T., Hill,D.E., Vidal,M.,
            Boone,C. and Thierry-Mieg,N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   10 (bases 1 to 3467)
  AUTHORS   Tarpey,P.S., Smith,R., Pleasance,E., Whibley,A., Edkins,S.,
            Hardy,C., O'Meara,S., Latimer,C., Dicks,E., Menzies,A.,
            Stephens,P., Blow,M., Greenman,C., Xue,Y., Tyler-Smith,C.,
            Thompson,D., Gray,K., Andrews,J., Barthorpe,S., Buck,G., Cole,J.,
            Dunmore,R., Jones,D., Maddison,M., Mironenko,T., Turner,R.,
            Turrell,K., Varian,J., West,S., Widaa,S., Wray,P., Teague,J.,
            Butler,A., Jenkinson,A., Jia,M., Richardson,D., Shepherd,R.,
            Wooster,R., Tejada,M.I., Martinez,F., Carvill,G., Goliath,R., de
            Brouwer,A.P., van Bokhoven,H., Van Esch,H., Chelly,J., Raynaud,M.,
            Ropers,H.H., Abidi,F.E., Srivastava,A.K., Cox,J., Luo,Y.,
            Mallya,U., Moon,J., Parnau,J., Mohammed,S., Tolmie,J.L.,
            Shoubridge,C., Corbett,M., Gardner,A., Haan,E., Rujirabanjerd,S.,
            Shaw,M., Vandeleur,L., Fullston,T., Easton,D.F., Boyle,J.,
            Partington,M., Hackett,A., Field,M., Skinner,C., Stevenson,R.E.,
            Bobrow,M., Turner,G., Schwartz,C.E., Gecz,J., Raymond,F.L.,
            Futreal,P.A. and Stratton,M.R.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC231657.2.
            
            On Dec 2, 2019 this sequence version replaced NM_001163321.3.
            
            Summary: This gene encodes a protein that contains a coiled-coil
            domain. Several alternatively spliced transcript variants encoding
            multiple isoforms have been found for this gene. [provided by
            RefSeq, Nov 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294024.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000603986.6/ ENSP00000474071.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                AC231657.2         88308-88404
            98-243              AC231657.2         91268-91413
            244-334             AC231657.2         91544-91634
            335-468             AC231657.2         91777-91910
            469-609             AC231657.2         93170-93310
            610-904             AC231657.2         93679-93973
            905-967             AC231657.2         94345-94407
            968-1142            AC231657.2         94763-94937
            1143-1241           AC231657.2         95056-95154
            1242-2156           AC231657.2         96485-97399
            2157-3467           AC231657.2         97853-99163
FEATURES             Location/Qualifiers
     source          1..3467
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..3467
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /note="coiled-coil domain containing 120"
                     /db_xref="GeneID:90060"
                     /db_xref="HGNC:HGNC:28910"
                     /db_xref="MIM:300947"
     exon            1..97
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            98..243
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     CDS             181..2271
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 120"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 120
                     isoform 1"
                     /protein_id="NP_001156793.2"
                     /db_xref="CCDS:CCDS55414.2"
                     /db_xref="GeneID:90060"
                     /db_xref="HGNC:HGNC:28910"
                     /db_xref="MIM:300947"
                     /translation="MRREPRYQGQVGPDIHTDSERTLSSHQPRPLDSTKMEVKGQLIS
                     SPTFNAPAALFGEAAPQVKSERLRGLLDRQRTLQEALSLKLQELRKVCLQEAELTGQL
                     PPECPLEPGERPQLVRRRPPTARAYPPPHPNQAHHSLCPAEELALEALEREVSVQQQI
                     AAAARRLALAPDLSTEQRRRRRQVQADALRRLHELEEQLRDVRARLGLPVLPLPQPLP
                     LSTGSVITTQGVCLGMRLAQLSQEDVVLHSESSSLSESGASHDNEEPHGCFSLAERPS
                     PPKAWDQLRAVSGGSPERRTPWKPPPSDLYGDLKSRRNSVASPTSPTRSLPRSASSFE
                     GRSVPATPVLTRGAGPQLCKPEGLHSRQWSGSQDSQMGFPRADPASDRASLFVARTRR
                     SNSSEALLVDRAAGGGAGSPPAPLAPSASGPPVCKSSEVLYERPQPTPAFSSRTAGPP
                     DPPRAARPSSAAPASRGAPRLPPVCGDFLLDYSLDRGLPRSGGGTGWGELPPAAEVPG
                     PLSRRDGLLTMLPGPPPVYAADSNSPLLRTKDPHTRATRTKPCGLPPEAAEGPEVHPN
                     PLLWMPPPTRIPSAGERSGHKNLALEGLRDWYIRNSGLAAGPQRRPVLPSVGPPHPPF
                     LHARCYEVGQALYGAPSQAPLPHSRSFTAPPVSGRYYADFLYPPELSARLSDLTLEGE
                     QSSSSDTQTPGTLV"
     exon            244..334
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            335..468
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            469..609
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            610..904
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            905..967
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1142
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1241
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..2156
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     exon            2157..3467
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3449..3454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /note="hexamer: AATAAA"
     polyA_site      3467
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /note="major polyA site"
ORIGIN      
        1 actgctgctg actgccacta ccagccggag ccagggcctg gtcgagacaa ctatttttga
       61 ggtatctgag gctaccccac agcactctct ggcattggca agactcgtgg ctgtgaccca
      121 tgggcctctg aggaggcgtt gtaagtccgc ccagctcccc acttgctgtg ctctcactca
      181 atgcgaaggg aaccaaggta ccagggccaa gtgggtccag acatccacac ggattctgaa
      241 aggactttgt ccagccatca gccacggcct ctcgacagca ccaagatgga agtcaaaggt
      301 cagctgatca gctctcctac cttcaatgcc ccagctgccc tgttcggaga ggctgccccc
      361 caggtgaagt cagagcgtct gcgggggctg cttgaccggc agcggaccct gcaggaggcc
      421 ctgagcctga aacttcagga gctccgcaaa gtgtgtctcc aggaggcgga gctgactggc
      481 cagctgcccc ctgagtgccc actagagcct ggtgaacggc cccagttggt ccgccggcgg
      541 ccccccacag cccgcgccta ccctccaccg caccccaacc aagcacacca ctccttgtgc
      601 cctgctgagg agctggctct tgaggccctg gaacgcgagg tgtcagtgca acagcagatc
      661 gcggcggccg cccgccgcct ggccttggcc cctgatctga gcaccgagca gcgccggcgc
      721 cggcgccagg tccaggcaga tgcactgagg aggctgcatg agctagagga gcagctcagg
      781 gatgtccggg cccgccttgg cctcccagtg ctcccgctgc cccagccact gccactgtcc
      841 acggggtcag tgatcaccac ccagggagtc tgcctgggca tgcgtcttgc tcagctcagc
      901 caagaggacg tagttctgca ctcagagagc agctccctct cagagtctgg ggccagccat
      961 gacaacgagg agccccatgg ctgcttctct ctggccgagc gcccctcacc acccaaggct
     1021 tgggaccagc tgcgggcagt atctgggggg agccctgagc ggcgaacccc atggaaacca
     1081 cctccatcag atctttatgg ggatctgaag agccggcgga actctgtggc cagccccacc
     1141 agccccacac gctcgctgcc caggagtgcc tccagttttg aggggcgaag tgtgcctgcc
     1201 acccctgtcc tcacccgggg cgctggcccc cagctctgca aacctgaagg ccttcattct
     1261 cgtcagtggt ccggcagcca ggactcccag atgggcttcc cccgggcgga ccctgcctcc
     1321 gatcgcgcct ccctcttcgt agctcgcacc cgccgcagca acagttctga ggccctgctg
     1381 gtggaccggg ccgctggtgg gggagctggc tccccgcctg cccctctggc tccctctgcc
     1441 tctggccccc cagtctgcaa gagcagtgag gtgctgtatg agcgccccca accaacccct
     1501 gccttctcct cccgcacagc aggcccccca gaccctcccc gggccgcccg gcctagctca
     1561 gctgcccctg cctcccgagg tgccccccgg ctcccacctg tgtgtggaga cttcctcttg
     1621 gactattcct tggaccgggg cctgccccgc agtggcggtg gaacaggctg gggggagctg
     1681 ccgcctgcag ctgaggtccc aggacccctc tcccgccggg atgggctcct caccatgctc
     1741 cccggcccac cacctgtgta tgcagctgac agcaacagcc ccctcctccg caccaaggac
     1801 ccccacaccc gtgccacccg cactaagccc tgtggcctgc ccccagaggc tgccgaaggc
     1861 cctgaggtgc atccaaaccc tctgctgtgg atgcccccac ccacccgtat cccctcggct
     1921 ggtgaacgca gtggccacaa gaacctggct ctggaggggc tgcgggactg gtacatccgg
     1981 aactcgggac tggctgcggg gccccagcgc cggcctgtgc tcccttccgt gggcccgcca
     2041 cacccaccct tcctccatgc ccgctgctat gaggtgggcc aggcgctgta cggggccccc
     2101 agccaggcgc cactcccaca ctcgaggagt ttcacggcgc cccctgtctc tggcagatac
     2161 tacgcggact tcctgtatcc cccggagctg agcgctcgtt taagtgacct gacgctagag
     2221 ggggagcagt cctccagttc tgacacccag accccgggga cactggtctg accccttctg
     2281 atatgtccct tgttggcctg ggcacgattc caatctgggg agcacacagc tgacctcgct
     2341 gggccctggg gtgtggttgc tctcagtcct gagcagagtg cgccaaccta atcttccaag
     2401 gcccctggct ccccgtaggc ccaggaaggt gtctgacacc ctgcttcttc tctcacactg
     2461 tgctggggac tgggggccct cagctagctt aaaagagggg ggatgatgtc atggggaccc
     2521 caagcccctt cctccattta tgtttacagt tgtgacttag gtattcactg tcttcctcca
     2581 acactaggcg ttttacaaaa gggaaactgt gatctcatct ggttgggttc attcctgttc
     2641 ccatgcccaa ccaggttcca ttcaggaacc ccctccataa aatggaccat atcgggtctc
     2701 agggccattt agggcagcca ggagactccg gtgtgaacag aaatccctgc cacgcatcgc
     2761 cagggcagtt ggggcagtgg gctctctgcc cacacttgga aggactgcag tctgggtggg
     2821 atgcctgaaa gagcccaacc ccctctgtgc ccatggcctc tgccctgacc acccccagtc
     2881 aggaggcccc acaggagggg cacccggtag atgccagtga aatcctcagg tgaggtctgc
     2941 ctacgggcca cgggccactc accactcaca ccttccttgg ctttccttcc accctttttt
     3001 ttttctcgag acggagtctt gctctgtcac caggctggag tgcagcggcg caatctcagc
     3061 tcactgcaac ctctgcctcc tgggttctcc tgcctcaccc tcccgagtag ctgggattac
     3121 aggcacacgc caccatgccc ggctaatttt tgtattctta gtagagacaa ggtttcacca
     3181 tattggccag gctggtcttg aactcttgac ctcgtgatct gcccgccttg gcctcccaaa
     3241 gtgctgggat tacagccgtg agccactgca cccagcccca atccaccact ttttaagcaa
     3301 acccacacaa gttgtgtttt ctatgatacc tgtctgtgat tttcggagct gggggttccc
     3361 ctaccccctt ttcctggcgt taagcttttc tttttatacc agtggatctg gacccaagac
     3421 attacccaca ctggaagggg atttgtataa taaatgtgta aactgaa
//
