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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
    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
    Physical map
    LOC387636 10 LOC387636 PLXDC2 10p12.33 plexin domain containing 2 LOC220998 10p12.33 similar to Protein C21orf59 NEBL 10p12 similar to Protein C21orf59 LOC387637 10 similar to eukaryotic initiation factor 4B LOC387638 10 LOC387638 LOC387639 10 LOC387639 LOC219689 10p12.33 similar to putative RNA methyltransferase LOC387640 10 similar to RIKEN cDNA E130012A19 MLLT10 10p12 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 DNAJC1 10p12.31 DnaJ (Hsp40) homolog, subfamily C, member 1 LOC340900 10p12.32 similar to Hypothetical protein FLJ10213 LOC338098 10p12 proteasome activator subunit 2 pseudogene LOC389943 10 similar to ribosomal protein L31 BMI1 10p13 B lymphoma MO-MLV insertion region (mouse) C10orf8 10pter-q22.1 chromosome 10 open reading frame 8 SPAG6 10p12-p11.2 sperm associated antigen 6 PIP5K2A 10p11.23 phosphatidylinositol-4-phosphate 5-kinase, type II, alpha FLJ32827 PILB 10p12 phosphatidylinositol-4-phosphate 5-kinase, type II, alpha LOC143371 10p12.31 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene PTF1A 10p12.31 pancreas specific transcription factor, 1a LOC387642 10 similar to RIKEN cDNA 4921522E24 MGC46732 LOC220213 10p12.31 hypothetical protein LOC220213 DKFZP761L0424 ARHGAP21 10p12.31 Rho GTPase activating protein 21 PRTFDC1 10p12.31 phosphoribosyl transferase domain containing 1 MGC26778 FLJ22002 10p12.31 hypothetical protein FLJ22002 GPR158 10p12.31 G protein-coupled receptor 158 MYO3A 10p11.1 myosin IIIA GAD2 10p11.23 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) APBB1IP 10p12.2 amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein LOC387643 10 similar to amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein; proline-rich protein 73; Rap1-interacting adaptor molecule TPT 10p12.2-p12.1 trans-prenyltransferase SSH3BP1 10p11.2 spectrin SH3 domain binding protein 1 LOC387644 10 similar to amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein; proline-rich protein 73; Rap1-interacting adaptor molecule LOC338616 10p12.1 hypothetical gene supported by AK093172 LOC389944 10 similar to hypothetical protein
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1339 - 328 - Yamada (2007)
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Nervousbrainhindbraincerebellum highly Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    mono polymer trimer
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    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)
    small molecule
  • 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
    corresponding disease(s) IDPC
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • misexpression of Ptf1a, in the notochord, hindgut, cloaca, and mesonephros was sufficient to replicate the murine Danforth short tail (Sd) phenotype