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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
Location 14q13.1      Physical location : 33.408.458 - 34.273.381
Synonym name
  • basic helix loop helix PAS protein 3
  • basic-helix-loop-helix-PAS protein MOP6
  • neuronal PAS3
    • Synonym symbol(s) MOP6, PASD6, bHLHe12
    DNA
    TYPE functioning gene
    STRUCTURE 864.92 kb     12 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
    - - 5939 - 933 - Kamnasaran, Zhou (2009)
    11 - 5843 - 901 - Kamnasaran, Zhou (2009)
    only one PAS domain
    - - 5849 - 903 - Zhou (2009)
    12 - 5900 - - - Zhou (2009)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex  
     brainhindbraincerebellum  
     brainbasal nucleiputamen  
     braindiencephalonamygdala  
     brainbasal nucleicorpus callosum  
     spinal cord    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    nervousbrain
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text brain, cardiac valves, limb, kidney, in developing lungs (Zhou 2009)
    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)