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FLASH GENE
Symbol AAAS contributors: SGE - updated : 10-01-2011
HGNC name achalasia, adrenocortical insufficiency, alacrimia
HGNC id 13666
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four WD40 repeats
  • C terminal end with triplet Ser-His-Leu (acting as PTS1)
  • HOMOLOGY
    interspecies ortholog to murine Aaas
    Homologene
    FAMILY
  • WD-repeat family of regulatory proteins
  • nucleoporin family at the nuclear pore complex (NPC)
  • CATEGORY transcription factor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nuclear envelope,pore
    text localized in the cytoplasm in AAAS syndrome
    basic FUNCTION
  • playing a potential role in normal development of peripheral and central nervous systems
  • playing a cell-type-specific role in regulating nucleocytoplasmic transport and in the maintenance and/or development of certain tissues
  • playing an essential role for nuclear pore complexes targeting
  • CELLULAR PROCESS cell cycle, division
    cell life, differentiation
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TMEM48, abrogation of this interaction may be important for the development of triple-A syndrome
  • interacting with FTH1 (fibroblasts from triple A patients (with known AAAS mutations) lack nuclear FTH1, suggesting that the nuclear translocation of FTH1 is defective) (Storr 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AAAS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS