Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PTF1A contributors: mct - updated : 28-02-2015
HGNC name pancreas specific transcription factor, 1a
HGNC id 23734
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