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FLASH GENE
Symbol AAAS contributors: SGE - updated : 10-01-2011
HGNC name achalasia, adrenocortical insufficiency, alacrimia
HGNC id 13666
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Endocrineadrenal gland    
Lymphoid/Immunethymus   highly
Nervousbrainhindbraincerebellum  
 brainbasal nucleicorpus callosum  
Reproductivefemale systemuteruscervix highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text lung
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