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FLASH GENE
Symbol PTBP1 contributors: mct/pgu - updated : 13-01-2018
HGNC name polypyrimidine tract binding protein 1
HGNC id 9583
Location 19p13.3      Physical location : 797.391 - 812.327
Synonym name
  • heterogeneous nuclear ribonucleoprotein polypeptide I
  • polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)
  • 57 kDa RNA-binding protein PPTB-1
  • RNA-binding protein
  • Synonym symbol(s) HNRPI1, HNRNPI, PTB1, PTB2, PTB3, PTB4, PTB, HNRPI, pPTB
    DNA
    TYPE functioning gene
    STRUCTURE 14.92 kb     15 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    motif repetitive sequence
    text structure multiple Sp1 and NF1 transcription factor binding sites
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing 3340 59.6 557 - 1991 1906035
  • isoform a
  • 15 splicing 3319 59 550 - 1991 1906035
  • isoform b
  • 14 splicing 3262 57.2 531 - 1991 1906035
  • isoform c
  • 7 splicing 2260 21 197 - 2003 12509450
  • lacking eight exons in the coding region
  • encoding a cytoplasmic isoform, also called PTB-T or p25
  • missing RRM1, RRM2, and the nuclear localization signal compared to isoform a
  • isoform d
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
     thymus   highly
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbrain   highly
    Reproductivemale systemprostate   
    Respiratorylung   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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
    HOMOLOGY
    interspecies ortholog to rattus Ptbp1 (97.0pc)
    ortholog to murine Ptbp1 (97.3pc)
    Homologene
    FAMILY
  • heterogeneous nuclear ribonucleoprotein family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text
  • 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
    text
  • pre-mRNA processing
  • RNA transport
  • PATHWAY
    metabolism nucleic
    signaling
    RNA metabolism
    a component
  • spliceosome
  • complexed with heterogeneous nuclear RNA
  • INTERACTION
    DNA
    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
    protein
  • 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
    REGULATION
    ASSOCIATED DISORDERS
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may serve as a novel prognostic marker for Lymph Node-metastatic bladder cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    therapeutic target for Lymph node-metastatic bladder cancer
    ANIMAL & CELL MODELS