LOCUS       NM_016046               1145 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens exosome component 1 (EXOSC1), transcript variant 1,
            mRNA.
ACCESSION   NM_016046 XM_939764 XM_944297 XM_944302 XM_944307 XM_944310
            XM_944315 XM_944318 XM_944323
VERSION     NM_016046.5
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 1145)
  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 1145)
  AUTHORS   Somashekar,P.H., Kaur,P., Stephen,J., Guleria,V.S., Kadavigere,R.,
            Girisha,K.M., Bielas,S., Upadhyai,P. and Shukla,A.
  TITLE     Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated
            with pontocerebellar hypoplasia
  JOURNAL   Clin Genet 99 (4), 594-600 (2021)
   PUBMED   33463720
  REMARK    GeneRIF: Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is
            associated with pontocerebellar hypoplasia.
            Review article
REFERENCE   3  (bases 1 to 1145)
  AUTHORS   Fraga de Andrade,I., Mehta,C. and Bresnick,E.H.
  TITLE     Post-transcriptional control of cellular differentiation by the RNA
            exosome complex
  JOURNAL   Nucleic Acids Res 48 (21), 11913-11928 (2020)
   PUBMED   33119769
  REMARK    GeneRIF: Post-transcriptional control of cellular differentiation
            by the RNA exosome complex.
            Review article
REFERENCE   4  (bases 1 to 1145)
  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   5  (bases 1 to 1145)
  AUTHORS   Ramirez-Garrastacho,M. and Esteban,R.
  TITLE     Yeast RNA viruses as indicators of exosome activity: human exosome
            hCsl4p participates in RNA degradation in Saccharomyces cerevisiae'
  JOURNAL   Yeast 28 (12), 821-832 (2011)
   PUBMED   22068837
  REMARK    GeneRIF: Human exosome hCsl4p participates in RNA degradation.
REFERENCE   6  (bases 1 to 1145)
  AUTHORS   Raijmakers,R., Egberts,W.V., van Venrooij,W.J. and Pruijn,G.J.
  TITLE     Protein-protein interactions between human exosome components
            support the assembly of RNase PH-type subunits into a six-membered
            PNPase-like ring
  JOURNAL   J Mol Biol 323 (4), 653-663 (2002)
   PUBMED   12419256
  REMARK    GeneRIF: Protein-protein interactions between human exosome
            components support the assembly of RNase PH-type subunits into a
            six-membered PNPase-like ring.
REFERENCE   7  (bases 1 to 1145)
  AUTHORS   Raijmakers,R., Noordman,Y.E., van Venrooij,W.J. and Pruijn,G.J.
  TITLE     Protein-protein interactions of hCsl4p with other human exosome
            subunits
  JOURNAL   J Mol Biol 315 (4), 809-818 (2002)
   PUBMED   11812149
  REMARK    GeneRIF: association of hCsl4p with the exosome is mediated by
            protein-protein interactions with hRrp42p and hRrp46p
REFERENCE   8  (bases 1 to 1145)
  AUTHORS   Brouwer,R., Vree Egberts,W.T., Hengstman,G.J., Raijmakers,R., van
            Engelen,B.G., Seelig,H.P., Renz,M., Mierau,R., Genth,E.,
            Pruijn,G.J. and van Venrooij,W.J.
  TITLE     Autoantibodies directed to novel components of the PM/Scl complex,
            the human exosome
  JOURNAL   Arthritis Res 4 (2), 134-138 (2002)
   PUBMED   11879549
REFERENCE   9  (bases 1 to 1145)
  AUTHORS   Chen,C.Y., Gherzi,R., Ong,S.E., Chan,E.L., Raijmakers,R.,
            Pruijn,G.J., Stoecklin,G., Moroni,C., Mann,M. and Karin,M.
  TITLE     AU binding proteins recruit the exosome to degrade ARE-containing
            mRNAs
  JOURNAL   Cell 107 (4), 451-464 (2001)
   PUBMED   11719186
REFERENCE   10 (bases 1 to 1145)
  AUTHORS   Brouwer,R., Allmang,C., Raijmakers,R., van Aarssen,Y.,
            Egberts,W.V., Petfalski,E., van Venrooij,W.J., Tollervey,D. and
            Pruijn,G.J.
  TITLE     Three novel components of the human exosome
  JOURNAL   J Biol Chem 276 (9), 6177-6184 (2001)
   PUBMED   11110791
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI550688.1, BC022067.2 and
            AF151866.1.
            
            On May 17, 2019 this sequence version replaced NM_016046.4.
            
            Summary: This gene encodes a core component of the exosome. The
            mammalian exosome is required for rapid degradation of AU rich
            element-containing RNAs but not for poly(A) shortening. The
            association of this protein with the exosome is mediated by
            protein-protein interactions with ribosomal RNA-processing protein
            42 and ribosomal RNA-processing protein 46. Alternative splicing of
            this gene results in multiple transcript variants. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.169300.1,
                                           SRR5189652.229193.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370902.8/ ENSP00000359939.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                BI550688.1         17-30
            15-810              BC022067.2         1-796
            811-1145            AF151866.1         807-1141
FEATURES             Location/Qualifiers
     source          1..1145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     gene            1..1145
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="exosome component 1"
                     /db_xref="GeneID:51013"
                     /db_xref="HGNC:HGNC:17286"
                     /db_xref="MIM:606493"
     exon            1..52
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..609
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="isoform a is encoded by transcript variant 1;
                     exosomal core protein CSL4; 3'-5' exoribonuclease CSL4
                     homolog; homolog of yeast exosomal core protein CSL4"
                     /codon_start=1
                     /product="exosome complex component CSL4 isoform a"
                     /protein_id="NP_057130.1"
                     /db_xref="CCDS:CCDS7459.1"
                     /db_xref="GeneID:51013"
                     /db_xref="HGNC:HGNC:17286"
                     /db_xref="MIM:606493"
                     /translation="MAPPVRYCIPGERLCNLEEGSPGSGTYTRHGYIFSSLAGCLMKS
                     SENGALPVVSVVRETESQLLPDVGAIVTCKVSSINSRFAKVHILYVGSMPLKNSFRGT
                     IRKEDVRATEKDKVEIYKSFRPGDIVLAKVISLGDAQSNYLLTTAENELGVVVAHSES
                     GIQMVPISWCEMQCPKTHTKEFRKVARVQPEFLQT"
     exon            53..168
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            169..243
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            244..332
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            333..366
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            367..417
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            418..502
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            503..1145
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      889..894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="hexamer: GATAAA"
     regulatory      903..908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="hexamer: ACTAAA"
     polyA_site      909
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="major polyA site"
     polyA_site      921
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
ORIGIN      
        1 ggttttggga cagcggcaat catggcgcca cctgtgagat actgcatccc cggcgaacgt
       61 ctgtgtaact tggaggaggg cagcccgggc agcggcacct acacccgcca cggctacatc
      121 ttttcgtcgc ttgccggctg tctgatgaag agcagcgaga atggcgcgct tccagtggtg
      181 tctgtagtga gagaaacaga gtcccagtta ctgccagatg tgggagctat tgtaacctgt
      241 aaggtctcta gcatcaattc acgctttgcc aaagtacaca tcctgtatgt ggggtccatg
      301 cctcttaaga actcttttcg aggaactatc cgcaaggaag atgtccgagc aactgaaaaa
      361 gacaaggttg aaatttataa gagtttccgc ccaggtgaca ttgtcttggc caaagtgatc
      421 tccttaggtg atgcacagtc caactacctg ctaaccaccg ccgagaacga gctgggagtg
      481 gtggtagccc acagtgagtc aggtatccag atggttccca tcagctggtg tgagatgcag
      541 tgccctaaga cccacactaa agaattccgg aaagtagccc gagtacaacc cgaattcttg
      601 cagacctaag aagccacttt ttaccctatg gaagggggta agctgttcct gagtataaca
      661 ccaagatgct gctgtcttta ttcaaacacc tggcgtcggc caacagccac ttccagaaaa
      721 atcttccagt ttacgctgta gatggaacat gtttctgtga acctatcagt ggatttcatt
      781 ctcttgagta ataaatctta tcttttcaag gcaccaacaa acaaaactgt gatattggaa
      841 atagcctatc cctcctgaca gtccttataa atacatattt tttgctatga taaaactttt
      901 ttactaaaag gatgttatag agtctgttgt cttaagcaga gaaagacatc taaatggtgt
      961 caggacattt cagtacttct gcttattgag tacttactgt gctaggcact gagtcaggtg
     1021 ctttacatac gtccccttca tttaggtaca ttgtgattta atgaaaattt gaggacacgt
     1081 ggtgatacag atagcatgtg aggcaggcat ggtggctcat gtttgtaaat cccagcactt
     1141 tggga
//
