LOCUS       NM_005033               1587 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens exosome component 9 (EXOSC9), transcript variant 2,
            mRNA.
ACCESSION   NM_005033
VERSION     NM_005033.3
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 1587)
  AUTHORS   Quttina,M., Waiters,K.D., Khan,A.F., Karami,S., Peidl,A.S.,
            Babajide,M.F., Pennington,J., Merchant,F.A. and Bawa-Khalfe,T.
  TITLE     Exosc9 Initiates SUMO-Dependent lncRNA TERRA Degradation to Impact
            Telomeric Integrity in Endocrine Therapy Insensitive Hormone
            Receptor-Positive Breast Cancer
  JOURNAL   Cells 12 (20), 2495 (2023)
   PUBMED   37887339
  REMARK    GeneRIF: Exosc9 Initiates SUMO-Dependent lncRNA TERRA Degradation
            to Impact Telomeric Integrity in Endocrine Therapy Insensitive
            Hormone Receptor-Positive Breast Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1587)
  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   3  (bases 1 to 1587)
  AUTHORS   Sakamoto,M., Iwama,K., Sekiguchi,F., Mashimo,H., Kumada,S.,
            Ishigaki,K., Okamoto,N., Behnam,M., Ghadami,M., Koshimizu,E.,
            Miyatake,S., Mitsuhashi,S., Mizuguchi,T., Takata,A., Saitsu,H.,
            Miyake,N. and Matsumoto,N.
  TITLE     Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with
            spinal motor neuronopathy and cerebellar atrophy
  JOURNAL   J Hum Genet 66 (4), 401-407 (2021)
   PUBMED   33040083
  REMARK    GeneRIF: Novel EXOSC9 variants cause pontocerebellar hypoplasia
            type 1D with spinal motor neuronopathy and cerebellar atrophy.
REFERENCE   4  (bases 1 to 1587)
  AUTHORS   Yoshino,S., Matsui,Y., Fukui,Y., Seki,M., Yamaguchi,K.,
            Kanamori,A., Saitoh,Y., Shimamura,T., Suzuki,Y., Furukawa,Y.,
            Kaneko,S., Seiki,M., Murakami,Y., Inoue,J.I. and Sakamoto,T.
  TITLE     EXOSC9 depletion attenuates P-body formation, stress resistance,
            and tumorigenicity of cancer cells
  JOURNAL   Sci Rep 10 (1), 9275 (2020)
   PUBMED   32518284
  REMARK    GeneRIF: EXOSC9 depletion attenuates P-body formation, stress
            resistance, and tumorigenicity of cancer cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1587)
  AUTHORS   Bizzari,S., Hamzeh,A.R., Mohamed,M., Al-Ali,M.T. and Bastaki,F.
  TITLE     Expanded PCH1D phenotype linked to EXOSC9 mutation
  JOURNAL   Eur J Med Genet 63 (1), 103622 (2020)
   PUBMED   30690203
  REMARK    GeneRIF: Expanded PCH1D phenotype linked to EXOSC9 mutation.
REFERENCE   6  (bases 1 to 1587)
  AUTHORS   Mukherjee,D., Gao,M., O'Connor,J.P., Raijmakers,R., Pruijn,G.,
            Lutz,C.S. and Wilusz,J.
  TITLE     The mammalian exosome mediates the efficient degradation of mRNAs
            that contain AU-rich elements
  JOURNAL   EMBO J 21 (1-2), 165-174 (2002)
   PUBMED   11782436
  REMARK    GeneRIF: The mammalian exosome mediates the efficient degradation
            of mRNAs that contain AU-rich elements, possibly by direct binding
            of PM/Scl-75 to these RNA regions.
REFERENCE   7  (bases 1 to 1587)
  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   8  (bases 1 to 1587)
  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
REFERENCE   9  (bases 1 to 1587)
  AUTHORS   Allmang,C., Petfalski,E., Podtelejnikov,A., Mann,M., Tollervey,D.
            and Mitchell,P.
  TITLE     The yeast exosome and human PM-Scl are related complexes of 3' -->
            5' exonucleases
  JOURNAL   Genes Dev 13 (16), 2148-2158 (1999)
   PUBMED   10465791
REFERENCE   10 (bases 1 to 1587)
  AUTHORS   Alderuccio,F., Chan,E.K. and Tan,E.M.
  TITLE     Molecular characterization of an autoantigen of PM-Scl in the
            polymyositis/scleroderma overlap syndrome: a unique and complete
            human cDNA encoding an apparent 75-kD acidic protein of the
            nucleolar complex
  JOURNAL   J Exp Med 173 (4), 941-952 (1991)
   PUBMED   2007859
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079341.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_005033.2.
            
            Summary: This gene encodes a component of the human exosome, a
            exoribonuclease complex which processes and degrades RNA in the
            nucleus and cytoplasm. This component may play a role in mRNA
            degradation and the polymyositis/scleroderma autoantigen complex.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            3' coding region, compared to variant 1. This results in a shorter
            protein (isoform 2), compared to isoform 1.
            
            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 :: SRR3476690.898416.1,
                                           SRR3476690.624888.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243498.10/ ENSP00000243498.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               AC079341.6         61162-61329
            169-263             AC079341.6         61666-61760
            264-383             AC079341.6         62513-62632
            384-486             AC079341.6         62754-62856
            487-624             AC079341.6         64461-64598
            625-707             AC079341.6         67379-67461
            708-840             AC079341.6         69806-69938
            841-929             AC079341.6         71422-71510
            930-1076            AC079341.6         73073-73219
            1077-1258           AC079341.6         73705-73886
            1259-1337           AC079341.6         76208-76286
            1338-1587           AC079341.6         76611-76860
FEATURES             Location/Qualifiers
     source          1..1587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q27"
     gene            1..1587
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /note="exosome component 9"
                     /db_xref="GeneID:5393"
                     /db_xref="HGNC:HGNC:9137"
                     /db_xref="MIM:606180"
     exon            1..168
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..1422
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /EC_number="3.1.13.-"
                     /note="isoform 2 is encoded by transcript variant 2;
                     polymyositis/scleroderma autoantigen 1, 75kDa; exosome
                     complex exonuclease RRP45; exosome complex component
                     RRP45; PMSCL autoantigen, 75kD; P75
                     polymyositis-scleroderma overlap syndrome associated
                     autoantigen; autoantigen PM/Scl 1"
                     /codon_start=1
                     /product="exosome complex component RRP45 isoform 2"
                     /protein_id="NP_005024.2"
                     /db_xref="CCDS:CCDS3722.2"
                     /db_xref="GeneID:5393"
                     /db_xref="HGNC:HGNC:9137"
                     /db_xref="MIM:606180"
                     /translation="MKETPLSNCERRFLLRAIEEKKRLDGRQTYDYRNIRISFGTDYG
                     CCIVELGKTRVLGQVSCELVSPKLNRATEGILFFNLELSQMAAPAFEPGRQSDLLVKL
                     NRLMERCLRNSKCIDTESLCVVAGEKVWQIRVDLHLLNHDGNIIDAASIAAIVALCHF
                     RRPDVSVQGDEVTLYTPEERDPVPLSIHHMPICVSFAFFQQGTYLLVDPNEREERVMD
                     GLLVIAMNKHREICTIQSSGGIMLLKDQVLRCSKIAGVKVAEITELILKALENDQKVR
                     KEGGKFGFAESIANQRITAFKMEKAPIDTSDVEEKAEEIIAEAEPPSEVVSTPVLWTP
                     GTAQIGEGVENSWGDLEDSEKEDDEGGGDQAIILDGIKMDTGVEVSDIGSQDAPIILS
                     DSEEEEMIILEPDKNPKKIRTQTTSAKQEKAPSKKPVKRRKKKRAAN"
     exon            169..263
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            264..383
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            384..486
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            487..624
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            625..707
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            708..840
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            841..929
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1076
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1258
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1337
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1587
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1454..1459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /note="hexamer: ATTAAA"
     polyA_site      1484
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /note="major polyA site"
     regulatory      1570..1575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /note="hexamer: AATAAA"
     polyA_site      1587
                     /gene="EXOSC9"
                     /gene_synonym="p5; p6; PCH1D; PM/Scl-75; PMSCL1; RRP45;
                     Rrp45p"
                     /note="major polyA site"
ORIGIN      
        1 gtaattttcc tgcgcctcgg ggcgagcagc ggcgcgcaag gaaagatcgg gttccgtttt
       61 tcccgcggat tctggtgcct gtggggccgg tgacccaaca ccatgaagga aacgccactc
      121 tcaaactgcg aacgccgctt cctactccgt gccatcgaag agaagaagcg gctggatggc
      181 agacaaacct atgattatag gaacatcagg atctcatttg gaacagatta cggatgctgc
      241 attgtggaac ttggaaaaac aagagttctt ggacaggttt cctgtgaact tgtgtctcca
      301 aaactcaatc gggcaacaga aggtattctt ttttttaacc ttgaactctc tcagatggcc
      361 gctccagctt tcgaacctgg caggcagtca gatctcttgg tgaagttgaa tcgactcatg
      421 gaaagatgtc taagaaattc gaagtgtata gacactgagt ctctctgtgt tgttgctggt
      481 gaaaaggttt ggcaaatacg tgtagaccta catttattaa atcatgatgg aaatattatt
      541 gatgctgcca gcattgctgc aatcgtggcc ttatgtcatt tccgaagacc tgatgtctct
      601 gtccaaggag atgaagtaac actgtataca cctgaagagc gtgatcctgt accattaagt
      661 atccaccaca tgcccatttg tgtcagtttt gcctttttcc agcaaggaac atatttattg
      721 gtggatccca atgaacgaga agaacgtgtg atggatggct tgctggtgat tgccatgaac
      781 aaacatcgag agatttgtac tatccagtcc agtggtggga taatgctact aaaagatcaa
      841 gttctgagat gcagtaaaat cgctggtgtg aaagtagcag aaattacaga gctaatattg
      901 aaagctttgg agaatgacca aaaagtaagg aaagaaggtg gaaagtttgg ttttgcagag
      961 tctatagcaa atcaaaggat cacagcattt aaaatggaaa aggcccctat tgatacctcg
     1021 gatgtagaag aaaaagcaga agaaatcatt gctgaagcag aacctccttc agaagttgtt
     1081 tctacacctg tgctatggac tcctggaact gcccaaattg gagagggagt agaaaactcc
     1141 tggggtgatc ttgaagactc tgagaaggaa gatgatgaag gcggtggtga tcaagctatc
     1201 attcttgatg gtataaaaat ggacactgga gtagaagtct ctgatattgg aagccaagat
     1261 gctcccataa tactctcaga tagtgaagaa gaagaaatga tcattttgga accagacaag
     1321 aatccaaaga aaataagaac acagaccacc agtgcaaaac aagaaaaagc accaagtaaa
     1381 aagccagtga aaagaagaaa aaagaagaga gctgccaatt aaagctaaca gttgtatatc
     1441 tgtatatata actattaaaa gggatattta ttccattctg agaaccctgg gtatttttta
     1501 ttcacaaatc cattataaaa tctagcagga ttttaaaaat agttttttgt ttttaatgtg
     1561 ctttaaaata ataaaccttc tggagca
//
