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FLASH GENE
Symbol NPAS3 contributors: mct/npt - updated : 28-10-2009
HGNC name neuronal PAS domain protein 3
HGNC id 19311
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two PAS (per-arnt-sim) dimerization domains
  • one PAS-associated c-terminal (PAC) domain
  • bipartite nuclear localisation signal at the Cterminus
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • basic helix-loop-helix (BHLH) family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • neuronal transcription factor
  • plays an important role in early lung morphogenesis by regulating expression of multiple genes that play major roles in organogenesis (Zhou 2009)
  • essential for normal lung development and plays a significant role in maintaining lung homeostasis,
  • because haploinsufficient adults develop alveolar loss and airways (Zhou 2009)
  • during development, functions by transactivating genes
  • important for lung development and/or regeneration,
    such as SHH, and genes implicated in maintaining lung
    homeostasis (Zhou 2009)
  • could also play a role in bronchopulmonary dysplasia (Zhou 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerization with another BHLH protein for efficient DNA binding
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to schizophrenia and mental illness
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    impaired lung structure and function in Npas3-deficient mice lead to pulmonary lethality shortly after birth (Zhou 2009)