LOCUS       NM_002819               3206 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens polypyrimidine tract binding protein 1 (PTBP1),
            transcript variant 1, mRNA.
ACCESSION   NM_002819
VERSION     NM_002819.5
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 3206)
  AUTHORS   Kliche,J., Simonetti,L., Krystkowiak,I., Kuss,H., Diallo,M.,
            Rask,E., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Proteome-scale characterisation of motif-based interactome rewiring
            by disease mutations
  JOURNAL   Mol Syst Biol 20 (9), 1025-1048 (2024)
   PUBMED   39009827
REFERENCE   2  (bases 1 to 3206)
  AUTHORS   Luo,X.J., Lu,Y.X., Wang,Y., Huang,R., Liu,J., Jin,Y., Liu,Z.K.,
            Liu,Z.X., Huang,Q.T., Pu,H.Y., Zeng,Z.L., Xu,R., Zhao,Q. and
            Wu,Q.N.
  TITLE     M6A-modified lncRNA FAM83H-AS1 promotes colorectal cancer
            progression through PTBP1
  JOURNAL   Cancer Lett 598, 217085 (2024)
   PUBMED   38964733
  REMARK    GeneRIF: M6A-modified lncRNA FAM83H-AS1 promotes colorectal cancer
            progression through PTBP1.
REFERENCE   3  (bases 1 to 3206)
  AUTHORS   Liu,T., Zhou,Y., Chen,L., Liu,Q., Hu,D., Huang,R., Ji,H., Lin,Y.
            and Sun,Y.
  TITLE     Splicing Factor PTBP1 Silencing Induces Apoptosis of Human Cervical
            Cancer Cells via PI3K/AKT Pathway and Autophagy
  JOURNAL   Front Biosci (Landmark Ed) 29 (8), 289 (2024)
   PUBMED   39206910
  REMARK    GeneRIF: Splicing Factor PTBP1 Silencing Induces Apoptosis of Human
            Cervical Cancer Cells via PI3K/AKT Pathway and Autophagy.
REFERENCE   4  (bases 1 to 3206)
  AUTHORS   Yang,J., Feng,J., Lv,J., Chu,X., Wei,Y., Zhang,Y., Li,J., Sun,Y.,
            Li,G., Jiang,T., Huang,J. and Fan,X.
  TITLE     PTBP1-mediated repression of neuron-specific CDC42 splicing
            constitutes a genomic alteration-independent, developmentally
            conserved vulnerability in IDH-wildtype glioblastoma
  JOURNAL   Funct Integr Genomics 24 (4), 135 (2024)
   PUBMED   39117866
  REMARK    GeneRIF: PTBP1-mediated repression of neuron-specific CDC42
            splicing constitutes a genomic alteration-independent,
            developmentally conserved vulnerability in IDH-wildtype
            glioblastoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3206)
  AUTHORS   Hu,H., Shen,S., Wu,J. and Ma,L.
  TITLE     CircTOP1 targeted regulation of PTBP1 expression promotes the
            progression of coronary artery calcification
  JOURNAL   Exp Cell Res 440 (2), 114147 (2024)
   PUBMED   38944174
  REMARK    GeneRIF: CircTOP1 targeted regulation of PTBP1 expression promotes
            the progression of coronary artery calcification.
REFERENCE   6  (bases 1 to 3206)
  AUTHORS   Raimondi,E., Romanelli,M.G., Moralli,D., Gamberi,C., Russo,M.P. and
            Morandi,C.
  TITLE     Assignment of the human gene encoding heterogeneous nuclear RNA
            ribonucleoprotein I (PTB) to chromosome 14q23-q24.1
  JOURNAL   Genomics 27 (3), 553-555 (1995)
   PUBMED   7558043
REFERENCE   7  (bases 1 to 3206)
  AUTHORS   Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and
            Vandekerckhove,J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   8  (bases 1 to 3206)
  AUTHORS   Ghetti,A., Pinol-Roma,S., Michael,W.M., Morandi,C. and Dreyfuss,G.
  TITLE     hnRNP I, the polypyrimidine tract-binding protein: distinct nuclear
            localization and association with hnRNAs
  JOURNAL   Nucleic Acids Res 20 (14), 3671-3678 (1992)
   PUBMED   1641332
REFERENCE   9  (bases 1 to 3206)
  AUTHORS   Patton,J.G., Mayer,S.A., Tempst,P. and Nadal-Ginard,B.
  TITLE     Characterization and molecular cloning of polypyrimidine
            tract-binding protein: a component of a complex necessary for
            pre-mRNA splicing
  JOURNAL   Genes Dev 5 (7), 1237-1251 (1991)
   PUBMED   1906036
REFERENCE   10 (bases 1 to 3206)
  AUTHORS   Gil,A., Sharp,P.A., Jamison,S.F. and Garcia-Blanco,M.A.
  TITLE     Characterization of cDNAs encoding the polypyrimidine tract-binding
            protein
  JOURNAL   Genes Dev 5 (7), 1224-1236 (1991)
   PUBMED   1906035
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ068293.1, BC002397.2 and
            AC006273.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002819.4.
            
            Summary: This gene belongs to the subfamily of ubiquitously
            expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The
            hnRNPs are RNA-binding proteins and they complex with heterogeneous
            nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs
            in the nucleus and appear to influence pre-mRNA processing and
            other aspects of mRNA metabolism and transport. While all of the
            hnRNPs are present in the nucleus, some seem to shuttle between the
            nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic
            acid binding properties. The protein encoded by this gene has four
            repeats of quasi-RNA recognition motif (RRM) domains that bind
            RNAs. This protein binds to the intronic polypyrimidine tracts that
            requires pre-mRNA splicing and acts via the protein degradation
            ubiquitin-proteasome pathway. It may also promote the binding of U2
            snRNP to pre-mRNAs. This protein is localized in the nucleoplasm
            and it is also detected in the perinucleolar structure.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: X65372.1, X66975.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356948.11/ ENSP00000349428.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-711               BQ068293.1         61-771
            712-2824            BC002397.2         739-2851
            2825-3206           AC006273.1         39517-39898
FEATURES             Location/Qualifiers
     source          1..3206
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3206
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /note="polypyrimidine tract binding protein 1"
                     /db_xref="GeneID:5725"
                     /db_xref="HGNC:HGNC:9583"
                     /db_xref="MIM:600693"
     exon            1..54
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..1720
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /note="isoform a is encoded by transcript variant 1;
                     polypyrimidine tract binding protein (heterogeneous
                     nuclear ribonucleoprotein I); heterogeneous nuclear
                     ribonucleoprotein polypeptide I; RNA-binding protein;
                     hnRNP I; 57 kDa RNA-binding protein PPTB-1"
                     /codon_start=1
                     /product="polypyrimidine tract-binding protein 1 isoform
                     a"
                     /protein_id="NP_002810.1"
                     /db_xref="CCDS:CCDS42456.1"
                     /db_xref="GeneID:5725"
                     /db_xref="HGNC:HGNC:9583"
                     /db_xref="MIM:600693"
                     /translation="MDGIVPDIAVGTKRGSDELFSTCVTNGPFIMSSNSASAANGNDS
                     KKFKGDSRSAGVPSRVIHIRKLPIDVTEGEVISLGLPFGKVTNLLMLKGKNQAFIEMN
                     TEEAANTMVNYYTSVTPVLRGQPIYIQFSNHKELKTDSSPNQARAQAALQAVNSVQSG
                     NLALAASAAAVDAGMAMAGQSPVLRIIVENLFYPVTLDVLHQIFSKFGTVLKIITFTK
                     NNQFQALLQYADPVSAQHAKLSLDGQNIYNACCTLRIDFSKLTSLNVKYNNDKSRDYT
                     RPDLPSGDSQPSLDQTMAAAFGAPGIISASPYAGAGFPPTFAIPQAAGLSVPNVHGAL
                     APLAIPSAAAAAAAAGRIAIPGLAGAGNSVLLVSNLNPERVTPQSLFILFGVYGDVQR
                     VKILFNKKENALVQMADGNQAQLAMSHLNGHKLHGKPIRITLSKHQNVQLPREGQEDQ
                     GLTKDYGNSPLHRFKKPGSKNFQNIFPPSATLHLSNIPPSVSEEDLKVLFSSNGGVVK
                     GFKFFQKDRKMALIQMGSVEEAVQALIDLHNHDLGENHHLRVSFSKSTI"
     exon            55..85
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            86..161
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            162..334
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            335..481
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            482..652
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            653..763
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            764..938
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1016
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1165
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1199
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1292
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1509
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1587
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..3206
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3094..3099
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /note="hexamer: ATTAAA"
     polyA_site      3115
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /note="major polyA site"
     regulatory      3187..3192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /note="hexamer: AATAAA"
     polyA_site      3206
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /note="major polyA site"
ORIGIN      
        1 attccggcgc ctccactccg tcccccgcgg gtctgctctg tgtgccatgg acggcattgt
       61 cccagatata gccgttggta caaagcgggg atctgacgag cttttctcta cttgtgtcac
      121 taacggaccg tttatcatga gcagcaactc ggcttctgca gcaaacggaa atgacagcaa
      181 gaagttcaaa ggtgacagcc gaagtgcagg cgtcccctct agagtgatcc acatccggaa
      241 gctccccatc gacgtcacgg agggggaagt catctccctg gggctgccct ttgggaaggt
      301 caccaacctc ctgatgctga aggggaaaaa ccaggccttc atcgagatga acacggagga
      361 ggctgccaac accatggtga actactacac ctcggtgacc cctgtgctgc gcggccagcc
      421 catctacatc cagttctcca accacaagga gctgaagacc gacagctctc ccaaccaggc
      481 gcgggcccag gcggccctgc aggcggtgaa ctcggtccag tcggggaacc tggccttggc
      541 tgcctcggcg gcggccgtgg acgcagggat ggcgatggcc gggcagagcc ccgtgctcag
      601 gatcatcgtg gagaacctct tctaccctgt gaccctggat gtgctgcacc agattttctc
      661 caagttcggc acagtgttga agatcatcac cttcaccaag aacaaccagt tccaggccct
      721 gctgcagtat gcggaccccg tgagcgccca gcacgccaag ctgtcgctgg acgggcagaa
      781 catctacaac gcctgctgca cgctgcgcat cgacttttcc aagctcacca gcctcaacgt
      841 caagtacaac aatgacaaga gccgtgacta cacacgccca gacctgcctt ccggggacag
      901 ccagccctcg ctggaccaga ccatggccgc ggccttcggt gcacctggta taatctcagc
      961 ctctccgtat gcaggagctg gtttccctcc cacctttgcc attcctcaag ctgcaggcct
     1021 ttccgttccg aacgtccacg gcgccctggc ccccctggcc atcccctcgg cggcggcggc
     1081 agctgcggcg gcaggtcgga tcgccatccc gggcctggcg ggggcaggaa attctgtatt
     1141 gctggtcagc aacctcaacc cagagagagt cacaccccaa agcctcttta ttcttttcgg
     1201 cgtctacggt gacgtgcagc gcgtgaagat cctgttcaat aagaaggaga acgccctagt
     1261 gcagatggcg gacggcaacc aggcccagct ggccatgagc cacctgaacg ggcacaagct
     1321 gcacgggaag cccatccgca tcacgctctc gaagcaccag aacgtgcagc tgccccgcga
     1381 gggccaggag gaccagggcc tgaccaagga ctacggcaac tcacccctgc accgcttcaa
     1441 gaagccgggc tccaagaact tccagaacat attcccgccc tcggccacgc tgcacctctc
     1501 caacatcccg ccctcagtct ccgaggagga tctcaaggtc ctgttttcca gcaatggggg
     1561 cgtcgtcaaa ggattcaagt tcttccagaa ggaccgcaag atggcactga tccagatggg
     1621 ctccgtggag gaggcggtcc aggccctcat tgacctgcac aaccacgacc tcggggagaa
     1681 ccaccacctg cgggtctcct tctccaagtc caccatctag gggcacaggc ccccacggcc
     1741 gggccccctg gcgacaactt ccatcattcc agagaaaagc cactttaaaa acagctgaag
     1801 tgaccttagc agaccagaga ttttattttt ttaaagagaa atcagtttac ctgtttttaa
     1861 aaaaattaaa tctagttcac cttgctcacc ctgcggtgac agggacagct caggctcttg
     1921 gtgactgtgg cagcgggagt tcccggccct ccacacccgg ggccagaccc tcggggccat
     1981 gccttggtgg ggcctgtgtc gggcgtgggg cctgcaggtg ggcgccccga ccacgacttg
     2041 gcttccttgt gccttaaaaa acctgccttc ctgcagccac acacccaccc ggggtgtcct
     2101 ggggacccaa ggggtggggg ggtcacacca gagagaggca gggggcctgg ccggctcctg
     2161 caggatcatg cagctggggc gcggcggccg cggctgcgac accccaaccc cagccctcta
     2221 atcaagtcac gtgattctcc cttcaccccg cccccagggc cttcccttct gcccccaggc
     2281 gggctccccg ctgctccagc tgcggagctg gtcgacataa tctctgtatt atatactttg
     2341 cagttgcaga cgtctgtgcc tagcaatatt tccagttgac caaatattct aatctttttt
     2401 catttatatg caaaagaaat agttttaagt aactttttat agcaagatga tacaatggta
     2461 tgagtgtaat ctaaacttcc ttgtggtatt accttgtatg ctgttacttt tattttattc
     2521 cttgtaatta agtcacaggc aggacccagt ttccagagag caggcggggc cgcccagtgg
     2581 gtcaggcaca gggagccccg gtcctatctt agagcccctg agcttcaggg aaggggcggg
     2641 cgtgtcgccg cctctggcat cgcctccggt tgccttacac cacgccttca cctgcagtcg
     2701 cctagaaaac ttgctctcaa acttcagggt tttttcttcc ttcaaatttt ggaccaaagt
     2761 ctcatttctg tgttttgcct gcctctgatg ctgggacccg gaaggcgggc gctcctcctg
     2821 tcttctctgt gctctttcta ccgcccccgc gtcctgtccc gggggctctc ctaggatccc
     2881 ctttccgtaa aagcgtgtaa caagggtgta aatatttata attttttata cctgttgtga
     2941 gacccgaggg gcggcggcgc ggttttttat ggtgacacaa atgtatattt tgctaacagc
     3001 aattccaggc tcagtattgt gaccgcggag ccacagggga ccccacgcac attccgttgc
     3061 cttacccgat ggcttgtgac gcggagagaa ccgattaaaa ccgtttgaga aactcctccc
     3121 ttgtctagcc ctgtgttcgc tgtggacgct gtagaggcag gttggccagt ctgtacctgg
     3181 acttcgaata aatcttctgt atcctc
//
