LOCUS       NM_001318364             947 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens exosome component 1 (EXOSC1), transcript variant 4,
            mRNA.
ACCESSION   NM_001318364
VERSION     NM_001318364.2
KEYWORDS    RefSeq.
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 947)
  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 947)
  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 947)
  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 947)
  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 947)
  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 947)
  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 947)
  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 947)
  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 947)
  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 947)
  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, W39427.1 and
            AF151866.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001318364.1.
            
            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 (4) lacks three alternate exons,
            resulting in the loss of an in-frame segment in the central coding
            region, compared to variant 1. The encoded isoform (d) is shorter
            than 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 :: W39427.1, SRR14584550.718751.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-86                BI550688.1         17-102
            87-261              W39427.1           82-256
            262-947             AF151866.1         456-1141
FEATURES             Location/Qualifiers
     source          1..947
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     gene            1..947
                     /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..411
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="isoform d is encoded by transcript variant 4;
                     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 d"
                     /protein_id="NP_001305293.1"
                     /db_xref="GeneID:51013"
                     /db_xref="HGNC:HGNC:17286"
                     /db_xref="MIM:606493"
                     /translation="MAPPVRYCIPGERLCNLEEGSPGSGTYTRHGYIFSSLAGCLMKS
                     SENGAVEIYKSFRPGDIVLAKVISLGDAQSNYLLTTAENELGVVVAHSESGIQMVPIS
                     WCEMQCPKTHTKEFRKVARVQPEFLQT"
     exon            53..168
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            169..219
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            220..304
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     exon            305..947
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      691..696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="hexamer: GATAAA"
     regulatory      705..710
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="hexamer: ACTAAA"
     polyA_site      711
                     /gene="EXOSC1"
                     /gene_synonym="CGI-108; CSL4; Csl4p; p13; PCH1F; SKI4;
                     Ski4p"
                     /note="major polyA site"
     polyA_site      723
                     /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 atggcgcggt tgaaatttat
      181 aagagtttcc gcccaggtga cattgtcttg gccaaagtga tctccttagg tgatgcacag
      241 tccaactacc tgctaaccac cgccgagaac gagctgggag tggtggtagc ccacagtgag
      301 tcaggtatcc agatggttcc catcagctgg tgtgagatgc agtgccctaa gacccacact
      361 aaagaattcc ggaaagtagc ccgagtacaa cccgaattct tgcagaccta agaagccact
      421 ttttacccta tggaaggggg taagctgttc ctgagtataa caccaagatg ctgctgtctt
      481 tattcaaaca cctggcgtcg gccaacagcc acttccagaa aaatcttcca gtttacgctg
      541 tagatggaac atgtttctgt gaacctatca gtggatttca ttctcttgag taataaatct
      601 tatcttttca aggcaccaac aaacaaaact gtgatattgg aaatagccta tccctcctga
      661 cagtccttat aaatacatat tttttgctat gataaaactt ttttactaaa aggatgttat
      721 agagtctgtt gtcttaagca gagaaagaca tctaaatggt gtcaggacat ttcagtactt
      781 ctgcttattg agtacttact gtgctaggca ctgagtcagg tgctttacat acgtcccctt
      841 catttaggta cattgtgatt taatgaaaat ttgaggacac gtggtgatac agatagcatg
      901 tgaggcaggc atggtggctc atgtttgtaa atcccagcac tttggga
//
