LOCUS       NM_020158                998 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens exosome component 5 (EXOSC5), mRNA.
ACCESSION   NM_020158
VERSION     NM_020158.4
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 998)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 998)
  AUTHORS   Calame,D.G., Herman,I., Fatih,J.M., Du,H., Akay,G., Jhangiani,S.N.,
            Coban-Akdemir,Z., Milewicz,D.M., Gibbs,R.A., Posey,J.E., Marafi,D.,
            Hunter,J.V., Fan,Y., Lupski,J.R. and Miyake,C.Y.
  TITLE     Risk of sudden cardiac death in EXOSC5-related disease
  JOURNAL   Am J Med Genet A 185 (8), 2532-2540 (2021)
   PUBMED   34089229
  REMARK    GeneRIF: Risk of sudden cardiac death in EXOSC5-related disease.
REFERENCE   3  (bases 1 to 998)
  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   4  (bases 1 to 998)
  AUTHORS   Slavotinek,A., Misceo,D., Htun,S., Mathisen,L., Frengen,E.,
            Foreman,M., Hurtig,J.E., Enyenihi,L., Sterrett,M.C., Leung,S.W.,
            Schneidman-Duhovny,D., Estrada-Veras,J., Duncan,J.L., Haaxma,C.A.,
            Kamsteeg,E.J., Xia,V., Beleford,D., Si,Y., Douglas,G.,
            Treidene,H.E., van Hoof,A., Fasken,M.B. and Corbett,A.H.
  TITLE     Biallelic variants in the RNA exosome gene EXOSC5 are associated
            with developmental delays, short stature, cerebellar hypoplasia and
            motor weakness
  JOURNAL   Hum Mol Genet 29 (13), 2218-2239 (2020)
   PUBMED   32504085
  REMARK    GeneRIF: Biallelic variants in the RNA exosome gene EXOSC5 are
            associated with developmental delays, short stature, cerebellar
            hypoplasia and motor weakness.
REFERENCE   5  (bases 1 to 998)
  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   6  (bases 1 to 998)
  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   7  (bases 1 to 998)
  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
REFERENCE   8  (bases 1 to 998)
  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   9  (bases 1 to 998)
  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   10 (bases 1 to 998)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011462.4 and AF281134.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020158.3.
            
            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 :: AF285785.1, SRR5189658.209245.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221233.9/ ENSP00000221233.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AC011462.4         33603-33610
            9-998               AF281134.1         1-990
FEATURES             Location/Qualifiers
     source          1..998
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..998
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /note="exosome component 5"
                     /db_xref="GeneID:56915"
                     /db_xref="HGNC:HGNC:24662"
                     /db_xref="MIM:606492"
     exon            1..179
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..739
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /note="exosome component Rrp46; exosome complex
                     exonuclease RRP46; ribosomal RNA-processing protein 46;
                     chronic myelogenous leukemia tumor antigen 28"
                     /codon_start=1
                     /product="exosome complex component RRP46"
                     /protein_id="NP_064543.3"
                     /db_xref="CCDS:CCDS12580.1"
                     /db_xref="GeneID:56915"
                     /db_xref="HGNC:HGNC:24662"
                     /db_xref="MIM:606492"
                     /translation="MEEETHTDAKIRAENGTGSSPRGPGCSLRHFACEQNLLSRPDGS
                     ASFLQGDTSVLAGVYGPAEVKVSKEIFNKATLEVILRPKIGLPGVAEKSRERLIRNTC
                     EAVVLGTLHPRTSITVVLQVVSDAGSLLACCLNAACMALVDAGVPMRALFCGVACALD
                     SDGTLVLDPTSKQEKEARAVLTFALDSVERKLLMSSTKGLYSDTELQQCLAAAQAASQ
                     HVFRFYRESLQRRYSKS"
     exon            180..293
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /inference="alignment:Splign:2.1.0"
     exon            294..415
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /inference="alignment:Splign:2.1.0"
     exon            416..556
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /inference="alignment:Splign:2.1.0"
     exon            557..646
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /inference="alignment:Splign:2.1.0"
     exon            647..998
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      979..984
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /note="hexamer: AATAAA"
     polyA_site      998
                     /gene="EXOSC5"
                     /gene_synonym="CABAC; hRrp46p; p12B; RRP41B; RRP46;
                     Rrp46p"
                     /note="major polyA site"
ORIGIN      
        1 gacaactgca gccgcacgtg ggctcggcgc gatggaggag gagacgcata ctgacgccaa
       61 aatccgtgct gaaaatggaa cagggtccag ccctcggggt cctggctgca gcctccggca
      121 ctttgcctgc gaacagaacc tgctgtcgcg gccagatggc tctgcttcct tcctgcaagg
      181 tgacacctct gtcctggcgg gtgtgtacgg gccggccgag gtgaaggtca gcaaagagat
      241 tttcaacaag gccacactcg aagtgatcct gaggccgaag attgggctgc ctggtgttgc
      301 agagaagagc cgggagcggc tgatcaggaa cacgtgcgag gcggtggtgc tgggcacgtt
      361 gcacccccgc acctccatca ccgtggtgct gcaggttgtc agcgatgccg gctctctcct
      421 ggcctgttgt ctgaatgccg cctgcatggc attggtggat gcaggtgtgc ccatgcgggc
      481 tctcttctgt ggggtcgcct gcgccctgga ctctgatggg accctcgtgc tggatcctac
      541 atccaagcaa gaaaaggagg cccgggcagt cctgaccttt gccctggaca gcgtggaacg
      601 gaagctgctg atgtccagca ccaaggggct ctactcagac actgagctcc agcagtgcct
      661 ggctgcggcc caggccgctt cgcaacacgt cttccgtttc taccgggaat cgctgcagag
      721 gcgttactcc aagagctgag gcaagctggg gcaaggggcc gctcccattg cctccaccca
      781 ctcaccccct acagcctgaa gcaaaccagc agcccagcct tgcctctctg acccatgggc
      841 tccttgagcc tgcagctctg taaccacagg gctcctgtgg ggaggccttg gcctgtgaca
      901 gcccccaggc ctgggggcac agatcccccc agcaaggata acattcaaag gagctcacat
      961 ttatggaatg gatgaatcaa taaattaatt cactttaa
//
