LOCUS       NM_016474               2940 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens coiled-coil domain containing 174 (CCDC174),
            transcript variant 1, mRNA.
ACCESSION   NM_016474
VERSION     NM_016474.5
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 2940)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 2940)
  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   3  (bases 1 to 2940)
  AUTHORS   Volodarsky,M., Lichtig,H., Leibson,T., Sadaka,Y., Kadir,R.,
            Perez,Y., Liani-Leibson,K., Gradstein,L., Shaco-Levy,R., Shorer,Z.,
            Frank,D. and Birk,O.S.
  TITLE     CDC174, a novel component of the exon junction complex whose
            mutation underlies a syndrome of hypotonia and psychomotor
            developmental delay
  JOURNAL   Hum Mol Genet 24 (22), 6485-6491 (2015)
   PUBMED   26358778
  REMARK    GeneRIF: We showed that CCDC174 is ubiquitous, restricted to the
            cell nucleus and co-localized with EIF4A3, the CCDC174 mutation
            caused depletion of RYR1 and marked myopathic changes in skeletal
            muscle of affected individuals
REFERENCE   4  (bases 1 to 2940)
  AUTHORS   Bussow,K., Cahill,D., Nietfeld,W., Bancroft,D., Scherzinger,E.,
            Lehrach,H. and Walter,G.
  TITLE     A method for global protein expression and antibody screening on
            high-density filters of an arrayed cDNA library
  JOURNAL   Nucleic Acids Res 26 (21), 5007-5008 (1998)
   PUBMED   9776767
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP195134.1, BC033897.1,
            BC013999.2, AC090952.3 and AI797763.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016474.4.
            
            Summary: The protein encoded by this gene is found in the nucleus,
            where it interacts with eukaryotic translation initiation factor
            4A, isoform 3. The encoded protein appears to be a part of the exon
            junction complex, which is involved in RNA processing, translation,
            and nonsense-mediated mRNA decay. A mutation in this gene has been
            associated with infantile hypotonia with psychomotor retardation.
            [provided by RefSeq, Mar 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.479240.1,
                                           SRR1660803.107619.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383794.7/ ENSP00000373304.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BP195134.1         17-18
            3-4                 BC033897.1         6-7
            5-560               BP195134.1         21-576
            561-1491            BC013999.2         553-1483
            1492-1969           BC033897.1         1495-1972
            1970-2843           AC090952.3         1410-2283           c
            2844-2940           AI797763.1         20-116              c
FEATURES             Location/Qualifiers
     source          1..2940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..2940
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /note="coiled-coil domain containing 174"
                     /db_xref="GeneID:51244"
                     /db_xref="HGNC:HGNC:28033"
                     /db_xref="MIM:616735"
     exon            1..117
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..1479
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /note="isoform a is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 174"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 174
                     isoform a"
                     /protein_id="NP_057558.3"
                     /db_xref="CCDS:CCDS2620.2"
                     /db_xref="GeneID:51244"
                     /db_xref="HGNC:HGNC:28033"
                     /db_xref="MIM:616735"
                     /translation="MDRRKKPLDVTASSLVDLKAELFRKQEEFKQEKLLKDSGVFGKP
                     KTTNKKPSIWSKQNVGVSNRAEKDAEQKIEEQKTLDKAREKLEEKAKLYEKMTKGDFI
                     DEEVEDMYLVDFTQKIIDKRKEMEASGAHRDSQKAGERDDDEENLPEGEIPPPQDPSE
                     EWVDYVDSLGRSRRCMRKDLPDLLEMDKNLQGRLFISPANEKTLLSEDMRKELQRQQW
                     EEEEREALKRPMGPVHYEDIRENEARQLGVGYFAFARDKELRNKQMKTLEMLREQTTD
                     QRTKRENIKEKRKAILEARLAKLRQKKMKKSKEGGTEEENRDGDVIGPLPPEPEAVPT
                     PRPAAQSSKVEVIVQERKDTKPGVPHIREWDRGKEFSFGYWSKRQSDLRAERDPEFAP
                     PSDYFVGQKRTGFSSSQAWSRPGPAQSDPGQCPDQSHGPSPEHTSPTPAPDNPPQAPT
                     VTFKTLDDMISYYKQVT"
     exon            118..222
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            223..323
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            324..382
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            383..560
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            561..656
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            657..799
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            800..894
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1027
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1180
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..2940
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1466..1471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /note="hexamer: AACAAG"
     polyA_site      1491
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
     regulatory      2923..2928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /note="hexamer: AATACA"
     polyA_site      2940
                     /gene="CCDC174"
                     /gene_synonym="C3orf19; ctr1; HSPC212; IHPM; IHPMR"
                     /note="major polyA site"
ORIGIN      
        1 gcgacggagg taggcttacg aggcctgtgt cgggtagaaa gggtccttcc tggaccggga
       61 ccctctgcca cgaccatgga ccgtaggaaa aagcctttgg acgtcacggc ctcctcgttg
      121 gtagatctta aggctgaact cttccgaaag caagaagaat tcaaacaaga aaaacttcta
      181 aaagattctg gagtttttgg aaaaccaaaa acaactaaca agaaaccaag tatctggagc
      241 aaacagaatg taggcgtttc aaatcgagct gagaaggatg ctgaacagaa gattgaagaa
      301 cagaagactt tagacaaagc aagggaaaaa ttggaagaaa aagccaaatt atatgaaaaa
      361 atgactaaag gagactttat agatgaagaa gtagaggata tgtaccttgt ggatttcaca
      421 cagaagatca tagacaagcg caaagaaatg gaggcatctg gtgcccatag agattctcaa
      481 aaggcaggag aaagggacga cgatgaggaa aaccttcctg agggagagat ccctcctccc
      541 caagacccca gtgaagaatg ggtggattac gtggactctt tggggcgttc ccggcgctgt
      601 atgagaaagg atttgccaga tctgctggag atggataaaa atcttcaggg gagacttttt
      661 attagtcctg ctaatgaaaa aaccctatta tctgaagata tgagaaaaga acttcagcgc
      721 cagcaatggg aggaagaaga aagagaggcc ctgaagaggc ccatggggcc cgtacattat
      781 gaagacattc gggaaaatga ggcccggcaa cttggtgttg ggtattttgc ctttgcccga
      841 gacaaagagt tgagaaacaa gcagatgaaa accttagaga tgctgcgtga acagacaaca
      901 gatcagagaa caaaacgaga aaacataaag gaaaagcgaa aggctatctt agaggcaaga
      961 cttgccaaac ttcgacaaaa aaagatgaaa aaatcaaaag aaggtggaac agaagaagaa
     1021 aatagagatg gagatgttat tgggcctttg ccaccggagc cagaggctgt gccaacccca
     1081 cgtcctgctg cccagagtag caaagtagaa gtcattgtcc aggagaggaa ggacaccaag
     1141 cctggagtgc cacacatccg ggagtgggac cgcggaaaag aattttcctt tggatactgg
     1201 tcgaagaggc agtcagatct ccgggctgag agagatcctg agtttgcccc gccgtcagat
     1261 tactttgtgg gtcagaagag aactggtttt tccagcagcc aggcatggag cagacctggg
     1321 ccagcacaga gtgacccagg gcagtgccct gaccagagcc acggacctag ccctgaacat
     1381 acgtcaccca ctcctgcccc cgacaaccca ccacaagccc ccacagttac tttcaaaact
     1441 ctggatgaca tgatttccta ttacaaacaa gtgacatgat ctttcaaagc acgctgactt
     1501 gggtttgtac tttgacagtg cctttctctc ccagagggag aaataacttt aggaactgaa
     1561 ttgtaccttt gtcctgtcct ttccctagga ggcacagact tcgggttgga tttgtcagca
     1621 aggaggaaag ttatggaaac tttggccact tggctgttca ttttattcta agtgggatag
     1681 ggacatacct acctggattt acatgtgagc tgcgatagaa tagaagtatt tattctgtaa
     1741 aattagacac tgagatgtgc ttataaccct gtttcatatc tactcccacg acttactcat
     1801 atttaagggt tcttttccat tccttttgca aatccgagca tgcaggtgtc tttattccaa
     1861 gggttcagct tccagatcag ccgatggacc ataggtcacg aggaatttct ccctgtcaag
     1921 cagtggaaaa ctgcatggga ggcaaaatgc tctgttctcc aagaggaccc ggaagtaatc
     1981 acataggaaa tgataaggaa gaccaggagg agctcttcgt agtccagaaa ggtagaagtg
     2041 ggagttgttt acttaatttt actgtcatac catgctatta cctacactcc tgtgtgcagt
     2101 gggcattcag taaatgtgtg ttgaaggact gggacgtacg tggaggctgc tggacctggt
     2161 cagagactga tgtgccttag cggcaatggt tagagctttt cagtgcatcc cacctccctg
     2221 tcgcccccat gctcggcttc ctcacattca ggagcctgac ttggatcaga cttggggctg
     2281 cacagtggag caggtgggtt cccgtgtcat tagtaataag gagagggttg ggggtgggca
     2341 gggctccaga aagtcagcag tgtgcctggg cacccacccc atcctctacc tgccacacct
     2401 cagagggttc ctacagctgc acacaagcag ttgagagttg atgaccaggc ccatagggct
     2461 cccacagctg gttcccaggc cagtgagtgc tgtgagaata cagtagcaca agtccttgtt
     2521 ctctgaagag tgggaaggag aggagtgagt gaagtagcct gtcccctgca ggtcctctgc
     2581 gatggcattg tctcggttcc cgcagtgctg cagtgtggaa gggagtgccc catcctcatt
     2641 acagatgaca cactggagtg tggaggggtc gatgacttgt gcagggtcat atggtaccta
     2701 aggggcagat ctcagactta aacacaattg atgtctaacc cctagacagt ctttttagtg
     2761 ccctctgctc tcagtcttgt tgccctagta tcaagcaatc ttagacaaac atcctgaatt
     2821 cttacaaact tacctctaaa ctctgaggat aaagttgcca gtccttttaa tggtcagcct
     2881 aatcattctg tcagcctaat cgggtaattg ctttttttaa taaatacaca taaaaaccaa
//
