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FLASH GENE
Symbol PTF1A contributors: mct - updated : 28-02-2015
HGNC name pancreas specific transcription factor, 1a
HGNC id 23734
Corresponding disease
IDPC diabetes mellitus, permanent neonatal, with cerebellar agenesis
Location 10p12.2      Physical location : 23.481.459 - 23.483.179
Synonym name
  • bHLH transcription factor p48
  • class II bHLH protein PTF1A
  • exocrine pancreas-specific transcription factor p48
  • p48 DNA-binding subunit of transcription factor PTF1
  • pancreas-specific transcription factor 1a
    • Synonym symbol(s) PTF1-p48, PTF1, PACA, PAGEN2, bHLHa29
    DNA
    TYPE functioning gene
    STRUCTURE 1.72 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1339 - 328 - Yamada (2007)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Nervousbrainhindbraincerebellum highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer trimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • having a role in pancreatic development and key regulator of cerebellar neurogenesis
  • basic helix-loop-helix transcription factor, playing an indispensable role for cell fate specification of subsets of neurons in the developing central nervous system
  • trimeric transcription factor essential to the development of the pancreas and to the maintenance of the differentiated state of the adult exocrine pancreas; is a master regulator of differentiation of acinar cells, responsible for the production of digestive enzymes
  • PTF1A and ATOH1 are essential and sufficient for GABAergic versus glutamatergic specification in the neuroepithelium
  • plays a crucial role in the early development of the pancreas and in the maintenance of the acinar cell phenotype
  • PTF1A/TRIP12 functional interaction may regulate pancreatic epithelial cell homeostasis
  • alters neuronal morphology, inducing the radial redistribution and branching of neurites in cortical pyramidal cells
  • FOXN4, RORB and their downstream effector PTF1A, have been shown to be indispensable intrinsic regulators for the differentiation of amacrine and horizontal cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component a dimer of P48/PTF1a (a pancreas and neural restricted basic helix-loop-helix [BHLH] protein) and a class A BHLH protein, together with a third protein, either the mammalian Suppressor of Hairless (RBPJ)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the RBP subunit primarily through two short conserved tryptophan-containing motifs, similar to the motif of the Notch intracellular domain (NotchIC) that interacts with RBPJ
  • PTF1A directly controls expression of immunoglobulin superfamily molecules NPHS1, and KIRREL2 in the developing central nervous system
  • cross-antagonism between NKX6-1, NKX6-2 and PTF1A in multipotent progenitors governs the equilibrium between endocrine and acinar cell neogenesis required for normal pancreas development
  • PTF1A-induced DLL1 expression stimulates multipotent pancreatic progenitor cells (MPCs) proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels
  • CTNNBIP1 is a novel PTF1A interactor, and regulates negatively PTF1A activity
  • RORB and FOXN4 synergistically induce PTF1A expression, suggesting a central role for RORB in a transcriptional hierarchy that directs this interneuron differentiation pathway
  • GABAergic inducing activity of ASCL1 requires the direct transcriptional regulation of PTF1A, providing therefore a new piece of the network governing neurotransmitter subtype specification during retinogenesis
  • MKNK1 is a direct PTF1A target
  • TRIP12 is an E3 ubiquitin-protein ligase as a new partner of PTF1A (protein stability of PTF1A is significantly increased upon decreased expression of TRIP12)
  • induces expression of the peptidergic neurotransmitter nociceptin, while minimally affecting the expression of genes linked to other neurotransmitter systems
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDPC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • misexpression of Ptf1a, in the notochord, hindgut, cloaca, and mesonephros was sufficient to replicate the murine Danforth short tail (Sd) phenotype