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FLASH GENE
Symbol AAAS contributors: SGE - updated : 10-01-2011
HGNC name achalasia, adrenocortical insufficiency, alacrimia
HGNC id 13666
Corresponding disease
AAAS ACTH resistant adrenal insufficiency
Location 12q13.13      Physical location : 53.701.240 - 53.715.412
Synonym name
  • adracalin
  • alacryma-achalasia-adrenal insufficiency, neurologic disorder gene
  • achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
  • aladin
  • Synonym symbol(s) ALADIN, AAA, ADRACALA, GL003, ADRACALIN, DKFZp586G1624, AAASb
    DNA
    TYPE functioning gene
    STRUCTURE 14.17 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KRT1 12q13 keratin 1 (epidermolytic hyperkeratosis) LOC387860 12 similar to keratin 1b LOC341409 12q13.13 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 LOC387861 12 similar to K+ channel tetramerization protein HUMCYT2A 12q13.13 cytokeratin 2 KRT3 12q13 keratin 3 KRT4 12q13 keratin 4 KRT6L 12q13.13 keratin 6L K5B 12q13.13 keratin 5b KRT8 12q13 keratin 8 KRT18 12q13 keratin 18 EIF4B 12q13.13 eukaryotic translation initiation factor 4B PRO1843 12q13.13 hypothetical protein PRO1843 TENC1 12q12 tensin like C1 domain-containing phosphatase FLJ14800 12q13.13 hypothetical protein FLJ14800 IGFBP6 12q13 insulin-like growth factor binding protein 6 SOAT2 12q13.13 sterol O-acyltransferase 2 LOC387862 12 hypothetical gene supported by AK130082; NM_001416 CSAD 12q13.11-q14.3 cysteine sulfinic acid decarboxylase LOC390316 12 similar to oriLyt TD-element binding protein 7 ITGB7 12q13.2 integrin, beta 7 MGC11308 12q13.13 hypothetical protein MGC11308 ESPL1 8 extra spindle poles like 1 (S. cerevisiae) PFDN5 12q13.1 prefoldin 5 C12orf10 12q13 chromosome 12 open reading frame 10 AAAS 12q13 achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) SP7 12q12 Sp7 transcription factor SP1 12q13.1 Sp1 transcription factor AMHR2 12q13 anti-Mullerian hormone receptor, type II DKFZP564J157 12q12 DKFZp564J157 protein PCBP2 12q13.12-q13.13 poly(rC) binding protein 2 MAP3K12 12q13 mitogen-activated protein kinase kinase kinase 12 TARBP2 12q12-q13 TAR (HIV) RNA binding protein 2 NPFF 12q13.13 neuropeptide FF-amide peptide precursor FLJ30317 12q13.13 hypothetical protein FLJ30317 ATF7 12q13 activating transcription factor 7 LOC341412 12q13.13 similar to ribosomal protein L31 ATP5G2 12q13.13 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2 KIAA1536 12q13.13 KIAA1536 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 1854 - 546 - -
    15 - 1755 - 513 ubiquitous 2005 16022285
  • three WD40 domains, one less than the original which we called AAAS-v1
  • 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