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FLASH GENE
Symbol PTBP1 contributors: mct/pgu - updated : 13-01-2016
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
    Physical map
    LOC388487 19 LOC388487 PPAP2C 19p13 phosphatidic acid phosphatase type 2C KIAA1193 19p13.3 phosphatidic acid phosphatase type 2C THEG 19p13.3 Theg homolog (mouse) KIAA1957 19p13.3 KIAA1957 FLJ40059 19p13.3 hypothetical protein FLJ40059 MADCAM1 19p13.3 mucosal vascular addressin cell adhesion molecule 1 LOC91978 19p13.3 hypothetical gene supported by BC009520 CDC34 19p13.3 cell division cycle 34 GZMM 19p13.3 granzyme M (lymphocyte met-ase 1) BSG 19p13.3 basigin (OK blood group) HCN2 19p13.3 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 POLRMT 19p13.3 polymerase (RNA) mitochondrial (DNA directed) FGF22 19p13.3 fibroblast growth factor 22 RNF126 19p13.3 ring finger protein 126 FSTL3 19p13 follistatin-like 3 (secreted glycoprotein) PALM 19p13.3 paralemmin LOC126353 19p13.3 hypothetical protein LOC126353 PTBP1 19p13.3 polypyrimidine tract binding protein 1 FLJ11535 19p13.3 hypothetical protein FLJ11535 AZU1 19p13.3 azurocidin 1 (cationic antimicrobial protein 37) PRTN3 19p13.3 proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen) ELA2 19p13.3 elastase 2, neutrophil DF 19p13.3 D component of complement (adipsin) TRAP95 MGC16353 19p13.3 hypothetical protein MGC16353 GPR54 19p13.3 G protein-coupled receptor 54 DRIL1 19p13.3 dead ringer-like 1 (Drosophila) WDR18 19p13.3 WD repeat domain 18 GRIN3B 19p13.3 glutamate receptor, ionotropic, N-methyl-D-aspartate 3B C19orf6 19p13.3 chromosome 19 open reading frame 6 CNN2 21q11 calponin 2 ABCA7 19p13.3 ATP-binding cassette, sub-family A (ABC1), member 7 HA-1 19p13.3 ATP-binding cassette, sub-family A (ABC1), member 7 POLR2E 19p13.3 polymerase (RNA) II (DNA directed) polypeptide E, 25kDa GPX4 19p13.3 glutathione peroxidase 4 (phospholipid hydroperoxidase) KIAA0963 19p13.3 Homo sapiens KIAA0963 protein (KIAA0963), mRNA. STK11 19p13.3 serine/threonine kinase 11 (Peutz-Jeghers syndrome) MGC40084 19p13.3 hypothetical protein MGC40084 ATP5D 19p13.3 ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit MIDN 19pter-p13.3 midnolin MGC39338 19p13.3 hypothetical protein MGC39338 CIRBP 19p13.3-p13.2 cold inducible RNA binding protein FLJ20640 19p13.3 hypothetical protein FLJ20640 EFNA2 19p13.3 ephrin-A2
    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   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four RNA recognition motifs (per monomer)
  • 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
    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
  • 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
  • promoting pre-mRNA 3' end processing in collaboration with hnRNPH
  • repressing alpha-actinin SM exon splicing
  • 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
  • post-transcriptional switch from PTBP1 to PTBP2 controls a widespread alternative splicing program during neuronal development
  • 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
  • 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
  • influences negative strand RNA synthesis of dengue virus
  • 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
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS