LOCUS       NP_002810                557 aa            linear   PRI 28-APR-2025
DEFINITION  polypyrimidine tract-binding protein 1 isoform a [Homo sapiens].
ACCESSION   NP_002810
VERSION     NP_002810.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 557)
  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  (residues 1 to 557)
  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  (residues 1 to 557)
  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  (residues 1 to 557)
  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  (residues 1 to 557)
  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  (residues 1 to 557)
  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  (residues 1 to 557)
  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  (residues 1 to 557)
  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  (residues 1 to 557)
  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 (residues 1 to 557)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..557
                     /product="polypyrimidine tract-binding protein 1 isoform
                     a"
                     /note="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"
                     /calculated_mol_wt=59502
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P26599.2)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P26599.2)"
     Region          57..557
                     /region_name="hnRNP-L_PTB"
                     /note="hnRNP-L/PTB/hephaestus splicing factor family;
                     TIGR01649"
                     /db_xref="CDD:273733"
     Site            127
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P26599.2)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P26599.2)"
     Site            141
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P26599.2)"
     Site            459
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P26599.2)"
     CDS             1..557
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /coded_by="NM_002819.5:47..1720"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42456.1"
                     /db_xref="GeneID:5725"
                     /db_xref="HGNC:HGNC:9583"
                     /db_xref="MIM:600693"
ORIGIN      
        1 mdgivpdiav gtkrgsdelf stcvtngpfi mssnsasaan gndskkfkgd srsagvpsrv
       61 ihirklpidv tegevislgl pfgkvtnllm lkgknqafie mnteeaantm vnyytsvtpv
      121 lrgqpiyiqf snhkelktds spnqaraqaa lqavnsvqsg nlalaasaaa vdagmamagq
      181 spvlriiven lfypvtldvl hqifskfgtv lkiitftknn qfqallqyad pvsaqhakls
      241 ldgqniynac ctlridfskl tslnvkynnd ksrdytrpdl psgdsqpsld qtmaaafgap
      301 giisaspyag agfpptfaip qaaglsvpnv hgalaplaip saaaaaaaag riaipglaga
      361 gnsvllvsnl npervtpqsl filfgvygdv qrvkilfnkk enalvqmadg nqaqlamshl
      421 nghklhgkpi ritlskhqnv qlpregqedq gltkdygnsp lhrfkkpgsk nfqnifppsa
      481 tlhlsnipps vseedlkvlf ssnggvvkgf kffqkdrkma liqmgsveea vqalidlhnh
      541 dlgenhhlrv sfsksti
//
