LOCUS       NM_016520               1795 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA.
ACCESSION   NM_016520 NM_016482
VERSION     NM_016520.3
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 1795)
  AUTHORS   Koranne,R., Brown,K., Vandenbroek,H. and Taylor,W.R.
  TITLE     C9ORF78 partially localizes to centromeres and plays a role in
            chromosome segregation
  JOURNAL   Exp Cell Res 413 (2), 113063 (2022)
   PUBMED   35167828
  REMARK    GeneRIF: C9ORF78 partially localizes to centromeres and plays a
            role in chromosome segregation.
REFERENCE   2  (bases 1 to 1795)
  AUTHORS   Bergfort,A., Preussner,M., Kuropka,B., Ilik,I.A., Hilal,T.,
            Weber,G., Freund,C., Aktas,T., Heyd,F. and Wahl,M.C.
  TITLE     A multi-factor trafficking site on the spliceosome remodeling
            enzyme BRR2 recruits C9ORF78 to regulate alternative splicing
  JOURNAL   Nat Commun 13 (1), 1132 (2022)
   PUBMED   35241646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1795)
  AUTHORS   Wang,J., Tadeo,X., Hou,H., Andrews,S., Moresco,J.J., Yates,J.R.
            3rd, Nagy,P.L. and Jia,S.
  TITLE     Tls1 regulates splicing of shelterin components to control
            telomeric heterochromatin assembly and telomere length
  JOURNAL   Nucleic Acids Res 42 (18), 11419-11432 (2014)
   PUBMED   25245948
REFERENCE   4  (bases 1 to 1795)
  AUTHORS   Lee,O.H., Kim,H., He,Q., Baek,H.J., Yang,D., Chen,L.Y., Liang,J.,
            Chae,H.K., Safari,A., Liu,D. and Songyang,Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   5  (bases 1 to 1795)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 1795)
  AUTHORS   Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
            Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   7  (bases 1 to 1795)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   8  (bases 1 to 1795)
  AUTHORS   Wang,Y., Han,K.J., Pang,X.W., Vaughan,H.A., Qu,W., Dong,X.Y.,
            Peng,J.R., Zhao,H.T., Rui,J.A., Leng,X.S., Cebon,J., Burgess,A.W.
            and Chen,W.F.
  TITLE     Large scale identification of human hepatocellular
            carcinoma-associated antigens by autoantibodies
  JOURNAL   J Immunol 169 (2), 1102-1109 (2002)
   PUBMED   12097419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB128496.1, BC007664.2, AL158207.15 and BU674575.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016520.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.69125.1,
                                           SRR3476690.175171.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467147, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372447.7/ ENSP00000361524.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                CB128496.1         19-47
            30-1301             BC007664.2         1-1272
            1302-1785           AL158207.15        28353-28836         c
            1786-1795           BU674575.1         23-32               c
FEATURES             Location/Qualifiers
     source          1..1795
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..1795
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /note="chromosome 9 open reading frame 78"
                     /db_xref="GeneID:51759"
                     /db_xref="HGNC:HGNC:24932"
                     /db_xref="MIM:619569"
     exon            1..137
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..924
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /note="hepatocellular carcinoma-associated antigen 59;
                     uncharacterized protein C9orf78; telomere length and
                     silencing protein 1 homolog"
                     /codon_start=1
                     /product="splicing factor C9orf78"
                     /protein_id="NP_057604.1"
                     /db_xref="CCDS:CCDS6931.1"
                     /db_xref="GeneID:51759"
                     /db_xref="HGNC:HGNC:24932"
                     /db_xref="MIM:619569"
                     /translation="MPVVRKIFRRRRGDSESEEDEQDSEEVRLKLEETREVQNLRKRP
                     NGVSAVALLVGEKVQEETTLVDDPFQMKTGGMVDMKKLKERGKDKISEEEDLHLGTSF
                     SAETNRRDEDADMMKYIETELKKRKGIVEHEEQKVKPKNAEDCLYELPENIRVSSAKK
                     TEEMLSNQMLSGIPEVDLGIDAKIKNIISTEDAKARLLAEQQNKKKDSETSFVPTNMA
                     VNYVQHNRFYHEELNAPIRRNKEEPKARPLRVGDTEKPEPERSPPNRKRPANEKATDD
                     YHYEKFKKMNRRY"
     exon            138..197
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     exon            198..249
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     exon            250..320
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     exon            321..398
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     exon            399..596
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     exon            597..733
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     exon            734..832
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     exon            833..1795
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1773..1778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /note="hexamer: ATTAAA"
     polyA_site      1795
                     /gene="C9orf78"
                     /gene_synonym="bA409K20.3; CSU2; HCA59; HSPC220; TLS1"
                     /note="major polyA site"
ORIGIN      
        1 agcctgggcc gctgcgcaga ggcgcggcgg ctgtacaact cggccgttgt caccatgccg
       61 gtcgtccgga agattttccg tcgccgccgg ggcgactcgg agtcagagga agatgagcag
      121 gactcagagg aggttcgatt aaaactggaa gagaccagag aggtacagaa cttgaggaag
      181 aggcccaacg gggtgagtgc tgtggccttg ctggtgggag agaaggtaca agaggagacc
      241 actctagtgg atgatccctt tcagatgaag acaggtggta tggtggatat gaagaaactg
      301 aaggaaaggg gcaaagataa gatcagtgag gaggaggacc tgcacctggg gacatcgttt
      361 tctgcagaaa ccaaccgaag ggatgaggat gcagacatga tgaagtacat tgagacagag
      421 ctaaagaaga ggaaagggat cgtggaacat gaggaacaga aagttaagcc aaagaatgca
      481 gaggactgtc tttatgaact tccagaaaac atccgtgttt cctcagcaaa gaagaccgag
      541 gagatgcttt ccaaccagat gctgagtggc attcctgagg tggacctggg catcgatgct
      601 aaaataaaaa atatcatttc cacggaggat gccaaggccc gtctgctggc agagcagcag
      661 aacaagaaga aagacagcga gacctccttc gtgcctacca acatggctgt gaattatgtg
      721 cagcacaaca gattttatca tgaggagctc aacgcgccca tacggagaaa caaagaagag
      781 cccaaggccc ggcccttgag agtaggtgac acggagaagc cagagcctga gcggtcccct
      841 cctaaccgca agcgtcctgc taacgagaag gcaactgatg actatcatta tgagaagttc
      901 aagaaaatga ataggcggta ctgagttgtg cagagtggga tgtaaatatc gccttcctct
      961 ccctatatcc ctcccatgaa aaatggcttc ctggccgggc gtggtggctc ctgcctgtaa
     1021 tcccagcact ttgggaggcc gaggtgggcg gatcacctga ggtcgggagt ttgagaccag
     1081 cctgaccaac atggagaaac ccagtctcta ctgaaaatac agaaaagtta gccaggcgtg
     1141 gtggcacatg cctgtaatcc cagctgctca ggaggctgag gcaggagaat tgcttgaacc
     1201 caagaggcgg aggttgtggt gagccgagat tgcacctttg tactccagcc tgggcaacga
     1261 gcaaaaaact ctgtctcaaa aaaaaaaaaa aaaaaaaaaa agaaaaagaa aaatggcttc
     1321 caggacagag catgctcatt tgctggcgga cagttccaga aacagaccct gttagtcctt
     1381 ctacttacct gctggatttt tcaagcacta aatttataac tttttgaaac aaaataatgt
     1441 gtaattttcc atttgggggc aaactctatt cttgtgagca ttattaaatc ttgtttgtaa
     1501 atatattgtc tttctcttaa tatttgctct gggtcaggaa gaagctgttc acggtgtgat
     1561 aatactcttt agattgtgct ttcattatta tagatgcatc atgtcttctg ctttcacgtg
     1621 tctgggatgg ggtcagaaat gcatcctcca gctgacagaa aaatccagga tgagatcaga
     1681 aggatactgg tgttttctga cttttacaaa attacttgtt tgttttcatt aaaaaaaaag
     1741 cataaactat gtttcttatt actattagaa ttattaaatt tcaaaatgaa tccaa
//
