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Symbol PTBP1 contributors: mct/pgu - updated : 13-01-2018
HGNC name polypyrimidine tract binding protein 1
HGNC id 9583
  • four RNA recognition motifs (per monomer), four RNA binding domains that each binds a short pyrimidine element, allowing recognition of diverse pyrimidine-rich sequences
  • a nuclear export signal (NES)
  • a nuclear localization signal (NLS)
  • four PTB-RAVER1 interacting motifs (PRIs) that bind to the helical face of the second RNA recognition motif (RRM2) in PTBP1
  • mono polymer homomer , dimer
    interspecies ortholog to rattus Ptbp1 (97.0pc)
    ortholog to murine Ptbp1 (97.3pc)
  • heterogeneous nuclear ribonucleoprotein family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
  • detected in the perinucleolar structure ; shuttling between the nucleus and cytoplasm
  • is a nucleocytoplasmic shuttle protein
  • basic FUNCTION
  • playing a role in regulation of pre-mRNA splicing and in the stimulation of translation initiation
  • promoting the binding of U2 snRNP to pre-mRNAs
  • acting via the protein degradation ubiquitin-proteasome pathway
  • repressing alpha-actinin SM exon splicing
  • post-transcriptional switch from PTBP1 to PTBP2 controls a widespread alternative splicing program during neuronal development
  • controls the transition from exon definition to an intron defined spliceosome
  • inducing human papillomavirus type 16 late gene expression by interfering with splicing inhibitory elements at the major late 5' splice site
  • not oncogenic, can either promote or antagonize a malignant trait dependent upon the specific intra-cellular environment
  • inhibits cytomegalovirus replication by interfering with major immediate-early (MIE) gene splicing through competition with U2AF for binding ot the polypyrimidine tract in MIE gene introns
  • PTBP1 and HNRNPL are positive regulators of SLC7A1 mRNA translation via the internal ribosome entry site (IRES) under stress conditions that cause a global decrease of protein synthesis
  • PTBP1 and an HNRNPL, promote the efficient translation of SLC7A1 mRNA during amino acid starvation
  • influences negative strand RNA synthesis of dengue virus
  • promoting pre-mRNA 3' end processing in collaboration with hnRNPH
  • with HNRNPA2B1, and HNRNPA1, have critical role in promoting PKM2 production in tumours, and overexpression of some combination of them is, like PKM2 expression, likely to be a general phenomenon in cancer
  • abundant RNA-binding protein binding to polypyrimidine tracts, such as those present at or upstream of 3prime splice sites, and that can regulate alternative splicing by creating a zone of silencing
  • PTBP1, a splicing regulator, is replaced in the brain and differentiated neuronal cell lines by PTBP2
  • PTBP1 and its brainspecific homologue, PTBP2, are associated with pre-mRNAs and influence pre-mRNA processing, as well as mRNA metabolism and transport
  • widely expressed RNA binding protein that acts as a regulator of alternative splicing and of cytoplasmic mRNA functions
  • functions as a key regulator of alternative pre-mRNA splicing in the nucleoplasm and promotes internal ribosome entry site-mediated translation initiation of viral and cellular mRNAs in the cytoplasm
  • PTBP1 and PTBP2, are also nonconserved cryptic exon repressors, and PTBP1 and PTBP2 are members of a family of cryptic exon repressors
  • PTBP1 and PTBP2 reprogram developmental pre-mRNA splicing in neurons
  • PTBP1 and PTBP2 serve both specific and redundant functions in neuronal pre-mRNA splicing
  • regulates alternative splicing of many target genes involving in tumorgenesis in colon cancer cells
  • PTBP1 was required for proper expression of the MYC-dependent gene program induced in germinal centers (GCs) B cells receiving T cell help and directly regulated the alternative splicing
  • contributes likely to spermatogenesis through regulation of spermatogonia proliferation
  • is essential for the humoral immune response
  • PTBP1 induces bladder cancer Lymph node metastasis and proliferation through an alternative splicing mechanism
  • translational regulation of PTBP1 protein levels during the cell cycle, which may affect downstream regulation of alternative splicing and translation mediated by PTBP1 protein isoforms
  • PTBP1 controls mRNA abundance and alternative splicing of important cell cycle regulators including CCND2, MYC, RBL1 and CDC25B
  • PTBP1, PTBP2 are essential for B cell development
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS cellular trafficking transport
  • pre-mRNA processing
  • RNA transport
    metabolism nucleic
    RNA metabolism
    a component
  • spliceosome
  • complexed with heterogeneous nuclear RNA
    RNA binding to intron polypyrimidine tracts
  • binding to the HBB 3'UTR
  • binding to specifically to UCUUC
  • binding to heterogeneous nuclear RNA (hnRNA)
  • binding to pre-mRNAs
  • small molecule
  • splicing factor proline, glutamine rich (SFPQ)
  • CELF1 interacts with PTB proteins (PTBP1, PTBP2) (CELF1 and PTB proteins modulate the inclusion of TPM2 exon 6B during myogenic differentiation)
  • PTBP1 was found to repress the defective splicing of ISCU, resulting in a drastic loss of mutant transcripts of myopathy with lactic acidosis
  • RAVER1-PTBP1 interaction is a general mode of binding that applies to RAVER1 complexes with PTB paralogues
  • re-expression of PTBP1 or PTBP2 in differentiated neurons inhibited DLG4 expression and impaired the development of glutamatergic synapses
  • role of PTBP1 in tumorigenesis may be partly mediated by its regulation of CDC42 alternative splicing and CDC42-v2 might function as a tumor suppressor
  • PTBP1 controls the activity of PBX1 to suppress its neuronal transcriptional program prior to induction of neuronal progenitor cells (NPC) development
  • PTBP1 facilitates colorectal cancer migration and invasion activities by inclusion of cortactin exon 11
  • PTBP1 acts as a dominant repressor of ISCU mis-splicing
  • PTBP1 interacts with TERT pre-mRNA in a NOVA1 dependent fashion
  • cell & other
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in breast cancer tissues compared with normal tissues and the same result was confirmed in breast cancer cell lines
    Variant & Polymorphism
    Candidate gene
  • may serve as a novel prognostic marker for Lymph Node-metastatic bladder cancer
  • Therapy target
    therapeutic target for Lymph node-metastatic bladder cancer