LOCUS       NM_004643               1811 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens poly(A) binding protein nuclear 1 (PABPN1), transcript
            variant 1, mRNA.
ACCESSION   NM_004643
VERSION     NM_004643.4
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 1811)
  AUTHORS   Gordon,J.M., Phizicky,D.V., Scharfen,L., Brown,C.L., Arias
            Escayola,D., Kanyo,J., Lam,T.T., Simon,M.D. and Neugebauer,K.M.
  TITLE     Phosphorylation of the nuclear poly(A) binding protein (PABPN1)
            during mitosis protects mRNA from hyperadenylation and maintains
            transcriptome dynamics
  JOURNAL   Nucleic Acids Res 52 (16), 9886-9903 (2024)
   PUBMED   38943343
  REMARK    GeneRIF: Phosphorylation of the nuclear poly(A) binding protein
            (PABPN1) during mitosis protects mRNA from hyperadenylation and
            maintains transcriptome dynamics.
REFERENCE   2  (bases 1 to 1811)
  AUTHORS   Saez-Martinez,P., Porcel-Pastrana,F., Montero-Hidalgo,A.J., Lozano
            de la Haba,S., Sanchez-Sanchez,R., Gonzalez-Serrano,T.,
            Gomez-Gomez,E., Martinez-Fuentes,A.J., Jimenez-Vacas,J.M.,
            Gahete,M.D. and Luque,R.M.
  TITLE     Dysregulation of RNA-Exosome machinery is directly linked to major
            cancer hallmarks in prostate cancer: Oncogenic role of PABPN1
  JOURNAL   Cancer Lett 584, 216604 (2024)
   PUBMED   38244911
  REMARK    GeneRIF: Dysregulation of RNA-Exosome machinery is directly linked
            to major cancer hallmarks in prostate cancer: Oncogenic role of
            PABPN1.
REFERENCE   3  (bases 1 to 1811)
  AUTHORS   Guan,W.L., Jiang,L.L., Yin,X.F. and Hu,H.Y.
  TITLE     PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA
            binding, leading to CFIm25 sequestration that impairs alternative
            polyadenylation
  JOURNAL   J Biol Chem 299 (8), 105019 (2023)
   PUBMED   37422193
  REMARK    GeneRIF: PABPN1 aggregation is driven by Ala expansion and
            poly(A)-RNA binding, leading to CFIm25 sequestration that impairs
            alternative polyadenylation.
REFERENCE   4  (bases 1 to 1811)
  AUTHORS   Bergeron,D., Pal,G., Beaulieu,Y.B., Chabot,B. and Bachand,F.
  TITLE     Regulated Intron Retention and Nuclear Pre-mRNA Decay Contribute to
            PABPN1 Autoregulation
  JOURNAL   Mol Cell Biol 35 (14), 2503-2517 (2015)
   PUBMED   25963658
  REMARK    GeneRIF: Data indicate that intron 6 of the poly(A)-binding protein
            nuclear 1 (PABPN1) gene is required for autoregulation.
REFERENCE   5  (bases 1 to 1811)
  AUTHORS   Calado,A., Kutay,U., Kuhn,U., Wahle,E. and Carmo-Fonseca,M.
  TITLE     Deciphering the cellular pathway for transport of poly(A)-binding
            protein II
  JOURNAL   RNA 6 (2), 245-256 (2000)
   PUBMED   10688363
REFERENCE   6  (bases 1 to 1811)
  AUTHORS   Chen,Z., Li,Y. and Krug,R.M.
  TITLE     Influenza A virus NS1 protein targets poly(A)-binding protein II of
            the cellular 3'-end processing machinery
  JOURNAL   EMBO J 18 (8), 2273-2283 (1999)
   PUBMED   10205180
REFERENCE   7  (bases 1 to 1811)
  AUTHORS   Mezei,M.M., Mankodi,A., Brais,B., Marineau,C., Thornton,C.A.,
            Rouleau,G.A. and Karpati,G.
  TITLE     Minimal expansion of the GCG repeat in the PABP2 gene does not
            predispose to sporadic inclusion body myositis
  JOURNAL   Neurology 52 (3), 669-670 (1999)
   PUBMED   10025815
REFERENCE   8  (bases 1 to 1811)
  AUTHORS   Brais,B., Bouchard,J.P., Xie,Y.G., Rochefort,D.L., Chretien,N.,
            Tome,F.M., Lafreniere,R.G., Rommens,J.M., Uyama,E., Nohira,O.,
            Blumen,S., Korczyn,A.D., Heutink,P., Mathieu,J., Duranceau,A.,
            Codere,F., Fardeau,M. and Rouleau,G.A.
  TITLE     Short GCG expansions in the PABP2 gene cause oculopharyngeal
            muscular dystrophy
  JOURNAL   Nat Genet 18 (2), 164-167 (1998)
   PUBMED   9462747
  REMARK    Erratum:[Nat Genet 1998 Aug;19(4):404. Korcyn AD [corrected to
            Korczyn AD]]
REFERENCE   9  (bases 1 to 1811)
  AUTHORS   Brais,B., Xie,Y.G., Sanson,M., Morgan,K., Weissenbach,J.,
            Korczyn,A.D., Blumen,S.C., Fardeau,M., Tome,F.M., Bouchard,J.P. et
            al.
  TITLE     The oculopharyngeal muscular dystrophy locus maps to the region of
            the cardiac alpha and beta myosin heavy chain genes on chromosome
            14q11.2-q13
  JOURNAL   Hum Mol Genet 4 (3), 429-434 (1995)
   PUBMED   7795598
REFERENCE   10 (bases 1 to 1811)
  AUTHORS   Trollet,C., Boulinguiez,A., Roth,F., Stojkovic,T.,
            Butler-Browne,G., Evangelista,T., Lacau St Guily,J. and Richard,P.
  TITLE     Oculopharyngeal Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301305
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049829.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 2, 2020 this sequence version replaced NM_004643.3.
            
            Summary: This gene encodes an abundant nuclear protein that binds
            with high affinity to nascent poly(A) tails. The protein is
            required for progressive and efficient polymerization of poly(A)
            tails at the 3' ends of eukaryotic transcripts and controls the
            size of the poly(A) tail to about 250 nt. At steady-state, this
            protein is localized in the nucleus whereas a different poly(A)
            binding protein is localized in the cytoplasm. This gene contains a
            GCG trinucleotide repeat at the 5' end of the coding region, and
            expansion of this repeat from the normal 6 copies to 8-13 copies
            leads to autosomal dominant oculopharyngeal muscular dystrophy
            (OPMD) disease. Related pseudogenes have been identified on
            chromosomes 19 and X. Read-through transcription also exists
            between this gene and the neighboring upstream BCL2-like 2 (BCL2L2)
            gene. [provided by RefSeq, Dec 2010].
            
            Sequence Note:.
            
            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 :: SRR12921934.3276861.1,
                                           SRR14038195.2627285.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216727.9/ ENSP00000216727.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-364               AL049829.4         103515-103878
            365-479             AL049829.4         104239-104353
            480-547             AL049829.4         105057-105124
            548-654             AL049829.4         105435-105541
            655-742             AL049829.4         106023-106110
            743-894             AL049829.4         106196-106347
            895-1811            AL049829.4         107305-108221
FEATURES             Location/Qualifiers
     source          1..1811
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1811
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /note="poly(A) binding protein nuclear 1"
                     /db_xref="GeneID:8106"
                     /db_xref="HGNC:HGNC:8565"
                     /db_xref="MIM:602279"
     exon            1..364
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..934
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     poly(A) binding protein 2; poly(A) binding protein II;
                     polyadenylate-binding protein 2"
                     /codon_start=1
                     /product="polyadenylate-binding protein 2 isoform 1"
                     /protein_id="NP_004634.1"
                     /db_xref="CCDS:CCDS9592.1"
                     /db_xref="GeneID:8106"
                     /db_xref="HGNC:HGNC:8565"
                     /db_xref="MIM:602279"
                     /translation="MAAAAAAAAAAGAAGGRGSGPGRRRHLVPGAGGEAGEGAPGGAG
                     DYGNGLESEELEPEELLLEPEPEPEPEEEPPRPRAPPGAPGPGPGSGAPGSQEEEEEP
                     GLVEGDPGDGAIEDPELEAIKARVREMEEEAEKLKELQNEVEKQMNMSPPPGNAGPVI
                     MSIEEKMEADARSIYVGNVDYGATAEELEAHFHGCGSVNRVTILCDKFSGHPKGFAYI
                     EFSDKESVRTSLALDESLFRGRQIKVIPKRTNRPGISTTDRGFPRARYRARTTNYNSS
                     RSRFYSGFNSRPRGRVYRGRARATSWYSPY"
     exon            365..479
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /inference="alignment:Splign:2.1.0"
     exon            480..547
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /inference="alignment:Splign:2.1.0"
     exon            548..654
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /inference="alignment:Splign:2.1.0"
     exon            655..742
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /inference="alignment:Splign:2.1.0"
     exon            743..894
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1811
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1804..1809
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /note="hexamer: AATAAA"
     polyA_site      1811
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /note="major polyA site"
ORIGIN      
        1 agtctgagcg gcgatggcgg cggcggcggc ggcggcagca gcagcggggg ctgcgggcgg
       61 tcggggctcc gggccggggc ggcggcgcca tcttgtgccc ggggccggtg gggaggccgg
      121 ggagggggcc ccggggggcg caggggacta cgggaacggc ctggagtctg aggaactgga
      181 gcctgaggag ctgctgctgg agcccgagcc ggagcccgag cccgaagagg agccgccccg
      241 gccccgcgcc cccccgggag ctccgggccc tgggcctggt tcgggagccc ccggcagcca
      301 agaggaggag gaggagccgg gactggtcga gggtgacccg ggggacggcg ccattgagga
      361 cccggagctg gaagctatca aagctcgagt cagggagatg gaggaagaag ctgagaagct
      421 aaaggagcta cagaacgagg tagagaagca gatgaatatg agtccacctc caggcaatgc
      481 tggcccggtg atcatgtcca ttgaggagaa gatggaggct gatgcccgtt ccatctatgt
      541 tggcaatgtg gactatggtg caacagcaga agagctggaa gctcactttc atggctgtgg
      601 ttcagtcaac cgtgttacca tactgtgtga caaatttagt ggccatccca aagggtttgc
      661 gtatatagag ttctcagaca aagagtcagt gaggacttcc ttggccttag atgagtccct
      721 atttagagga aggcaaatca aggtgatccc aaaacgaacc aacagaccag gcatcagcac
      781 aacagaccgg ggttttccac gagcccgcta ccgcgcccgg accaccaact acaacagctc
      841 ccgctctcga ttctacagtg gttttaacag caggccccgg ggtcgcgtct acaggggccg
      901 ggctagagcg acatcatggt attcccctta ctaaaaaaag tgtgtattag gaggagagag
      961 aggaaaaaaa gaggaaagaa ggaaaaaaaa aagaattaaa aaaaaaaaaa agaaaaacag
     1021 aagatgacct tgatggaaaa aaaatatttt ttaaaaaaaa gatatactgt ggaagggggg
     1081 agaatcccat aactaactgc tgaggaggga cctgctttgg ggagtagggg aaggcccagg
     1141 gagtggggca gggggctgct tattcactct ggggattcgc catggacacg tctcaactgc
     1201 gcaagctgct gcccatgttt ccctgcccca cttcaccccc ttgggggctg ctcaagggta
     1261 ggtgggcgtg ggtggtagga ggtttttttt tttacccagg gctctggaag gacaccaaac
     1321 tgttctgctt gttaccttcc ctccgtcttc tcctcgcctt tcacagtccc ctcctgcctg
     1381 ctcctgtcca gccaggtcta ccacccaccc cacccctctt ctccggctcc ctgcccctcc
     1441 agattgcctg gtgatctatt ttgtttcctt ttgtgtttct ttttctgttt tgagtgtctt
     1501 tctttgcagg tttctgtagc cggaagatct ccgttccgct cccagcggct ccagtgtaaa
     1561 ttccccttcc ccctggggaa atgcactacc ttgttttggg gggtttaggg gtgtttttgt
     1621 ttttcagttg ttttgttttt ttgttttttt tttttttcct ttgccttttt tcccttttat
     1681 ttggagggaa tgggaggaag tgggaacagg gaggtgggag gtggattttg tttatttttt
     1741 tagctcattt ccaggggtgg gaattttttt ttaatatgtg tcatgaataa agttgttttt
     1801 gaaaataaaa a
//
