LOCUS       NM_016042               1813 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens exosome component 3 (EXOSC3), transcript variant 1,
            mRNA.
ACCESSION   NM_016042
VERSION     NM_016042.4
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 1813)
  AUTHORS   Lu,G., Liu,H., Wang,H., Tang,X., Luo,S., Du,M., Christiani,D.C. and
            Wei,Q.
  TITLE     Potentially functional variants of INPP5D and EXOSC3 in immunity B
            cell-related genes are associated with non-small cell lung cancer
            survival
  JOURNAL   Front Immunol 15, 1440454 (2024)
   PUBMED   39176091
  REMARK    GeneRIF: Potentially functional variants of INPP5D and EXOSC3 in
            immunity B cell-related genes are associated with non-small cell
            lung cancer survival.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1813)
  AUTHORS   Van Quekelberghe,C., Latta,K., Kunzmann,S., Grohmann,M. and
            Hansen,M.
  TITLE     Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection
            in infants with EXOSC3 mutation
  JOURNAL   Pediatr Nephrol 37 (11), 2781-2784 (2022)
   PUBMED   35522339
  REMARK    GeneRIF: Atypical hemolytic uremic syndrome induced by SARS-CoV2
            infection in infants with EXOSC3 mutation.
REFERENCE   3  (bases 1 to 1813)
  AUTHORS   Tsuda,M., Noguchi,M., Kurai,T., Ichihashi,Y., Ise,K., Wang,L.,
            Ishida,Y., Tanino,M., Hirano,S., Asaka,M. and Tanaka,S.
  TITLE     Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3
            in colonic mucosa impacts generation of colonic cancer
  JOURNAL   Cancer Sci 112 (12), 5100-5113 (2021)
   PUBMED   34626022
  REMARK    GeneRIF: Aberrant expression of MYD88 via RNA-controlling CNOT4 and
            EXOSC3 in colonic mucosa impacts generation of colonic cancer.
REFERENCE   4  (bases 1 to 1813)
  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   5  (bases 1 to 1813)
  AUTHORS   Mu,W., Heller,T. and Baranano,K.W.
  TITLE     Two siblings with a novel variant of EXOSC3 extended phenotypic
            spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild
            form
  JOURNAL   BMJ Case Rep 14 (1), e236732 (2021)
   PUBMED   33462000
  REMARK    GeneRIF: Two siblings with a novel variant of EXOSC3 extended
            phenotypic spectrum of pontocerebellar hypoplasia 1B to an
            exceptionally mild form.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1813)
  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   7  (bases 1 to 1813)
  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 1813)
  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 1813)
  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 1813)
  AUTHORS   Baas,F. and van Dijk,T.
  TITLE     EXOSC3 Pontocerebellar Hypoplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25144110
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF281132.1, AK290864.1 and
            BE048144.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016042.3.
            
            Summary: This gene encodes a non-catalytic component of the human
            exosome, a complex with 3'-5' exoribonuclease activity that plays a
            role in numerous RNA processing and degradation activities. Related
            pseudogenes of this gene are found on chromosome 19 and 21.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR1803614.56586.1,
                                           SRR1660803.163190.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153932, SAMEA2467146
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327304.10/ ENSP00000323046.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-982               AF281132.1         5-986
            983-1575            AK290864.1         976-1568
            1576-1813           BE048144.1         113-350
FEATURES             Location/Qualifiers
     source          1..1813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.2"
     gene            1..1813
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /note="exosome component 3"
                     /db_xref="GeneID:51010"
                     /db_xref="HGNC:HGNC:17944"
                     /db_xref="MIM:606489"
     exon            1..344
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..848
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /note="isoform 1 is encoded by transcript variant 1;
                     exosome complex exonuclease RRP40; exosome complex
                     component RRP40; ribosomal RNA-processing protein 40"
                     /codon_start=1
                     /product="exosome complex component RRP40 isoform 1"
                     /protein_id="NP_057126.2"
                     /db_xref="CCDS:CCDS35016.1"
                     /db_xref="GeneID:51010"
                     /db_xref="HGNC:HGNC:17944"
                     /db_xref="MIM:606489"
                     /translation="MAEPASVAAESLAGSRARAARTVLGQVVLPGEELLLPEQEDAEG
                     PGGAVERPLSLNARACSRVRVVCGPGLRRCGDRLLVTKCGRLRHKEPGSGSGGGVYWV
                     DSQQKRYVPVKGDHVIGIVTAKSGDIFKVDVGGSEPASLSYLSFEGATKRNRPNVQVG
                     DLIYGQFVVANKDMEPEMVCIDSCGRANGMGVIGQDGLLFKVTLGLIRKLLAPDCEII
                     QEVGKLYPLEIVFGMNGRIWVKAKTIQQTLILANILEACEHMTSDQRKQIFSRLAES"
     exon            345..494
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /inference="alignment:Splign:2.1.0"
     exon            495..646
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /inference="alignment:Splign:2.1.0"
     exon            647..1813
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1051..1056
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /note="hexamer: AATAAA"
     polyA_site      1071
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /note="major polyA site"
     regulatory      1536..1541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /note="hexamer: TATAAA"
     polyA_site      1569
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
     regulatory      1782..1787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
                     /note="hexamer: ATTATA"
     polyA_site      1813
                     /gene="EXOSC3"
                     /gene_synonym="bA3J10.7; CGI-102; hRrp-40; p10; PCH1B;
                     RRP40; Rrp40p"
ORIGIN      
        1 ggtgtttggt ggagcccgcg atggccgaac ctgcgtctgt cgcggctgaa tctctcgcgg
       61 gcagcagggc gcgcgctgca cgcacagtac taggtcaggt ggtgctcccg ggtgaggagc
      121 tgctcctgcc ggaacaggag gacgcggaag gccctggggg tgcagtggag cgaccgttga
      181 gcctgaatgc tagagcgtgc tcgcgggtgc gcgttgtatg cggtccgggc cttcggcgct
      241 gtggggaccg cctgctggtc accaagtgcg gccgcctccg tcacaaggag cccggcagtg
      301 gcagcggcgg cggtgtttac tgggtggact ctcagcagaa gcggtatgtt ccagtaaaag
      361 gagaccatgt gattggcata gtgacagcta aatctggaga tatattcaaa gttgatgttg
      421 gagggagtga gccagcttct ttgtcttact tgtcatttga aggtgcaact aaaagaaaca
      481 gaccaaatgt gcaggttgga gatctcatct atggccagtt tgtggttgct aataaagaca
      541 tggaaccaga gatggtctgt attgacagct gtggacgagc caatggaatg ggtgtcattg
      601 gacaggatgg tctgcttttt aaagtgactc tgggcttaat tagaaagcta ttagctccag
      661 attgtgaaat catacaggaa gtgggaaaac tctatccact ggagatagta tttggaatga
      721 atggaagaat atgggttaag gcaaaaacca tccagcagac tttaattttg gcaaacattt
      781 tagaagcttg tgaacacatg acgtcagatc aaagaaaaca gatcttctcc agattggcag
      841 aaagttgata taggtggact tttttacagg tcagttgagg caaaaaacta tgggtttttt
      901 caggtgaacc tcccccattt aaatactcag aagataaggt gtgaatgtat gtattattag
      961 agtccgaaag tatttttata agttactggt tttcacccac gcttttgtgg gagagaaaat
     1021 cattgcaaaa tcattttttt tgttcggtac aataaagttt actaaaaaac agtattaggg
     1081 tttatttgga gttaactccc ttagtaattg ctacagcttc cataattaac tggaggtcag
     1141 cagtaaaata attttgtgat tataacagta agccaggttc accagaggaa atgtggaata
     1201 cctaagtata aagcagcaaa gaaatgtcac ctgtagtccc attattcagc gggtgagtat
     1261 ataacaacga aatacttttt catttaccaa gtattgtgtt ttgcatggat taactccttt
     1321 attctaactg cagaagacac ttatcctcat aattgaaact gaggcacaga atttaacttg
     1381 gcctacattc tctatattca tcaaattgaa attatagtta ttatagctta tatgccactt
     1441 tgtaatatac ttttgtctac ttcaaacagc atgatacatt tcacaacttt agtcacatat
     1501 ttcatgttac aggatatttt tgagttttat cattatataa ataacactat gaggatttct
     1561 gaatccaaat ctggccaagt cttattttgc taaaatcatt tcctaggagc taagcataga
     1621 aaactcttct atgctattta gtatattaac caaaaccttt agaggtaaag agactgccag
     1681 gtgatccaca tcagtgattc ttggtttcta gacctctgag aatatgtgag atacagatcc
     1741 cctgaagcct atccatagaa agtccttttt ggatcaaaga gattatagaa ctctatttgt
     1801 tgataaagac caa
//
