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FLASH GENE
Symbol ALDH1A1 contributors: mct/npt - updated : 10-03-2010
HGNC name aldehyde dehydrogenase 1 family, member A1
HGNC id 402
Location 9q21.13      Physical location : 75.515.587 - 75.567.969
Synonym name
  • aldehyde dehydrogenase 1, soluble
  • retinaldehyde dehydrogenase 1
  • aldehyde dehydrogenase 1, soluble
  • aldehyde dehydrogenase, liver cytosolic
  • Synonym symbol(s) ALDH1, PUMB1, RALDH1, ALDH1A1-PENDING, ALDC, ALDH-E1, ALDH11, MGC2318, ALHDII
    EC.number 1.2.1.36,1.2.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 52.38 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    text structure
  • promoter region of the gene contains an ATA box and a CCAAT box, which are located 32 and 74 bp upstream, respectively, from the transcription initiation site
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2116 54.8 501 - 2002 11827465
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
    Nervousbrain    
    Reproductivefemale systembreast    Homo sapiens
     female systemovary    Homo sapiens
    Respiratorylung     Homo sapiens
    Visualeyelens   
     eyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    Digestivehepatocyte Homo sapiens
    cell lineage in adult stem cells isolated from bone marrow, brain, breast and possibly other tissues
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • the dorsal retina in development
  • highly expressed in embryonal tissue
  • PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    intraspecies paralog to ALDH1A3
    paralog to ALDH1A2
    homolog to ALDH1B1
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • oxidating retinal and a variety of aliphatic and aromatic aldehydes
  • catalyzing retinoic acid synthesis in dorsal retina
  • plays a critical role in protection against oxidative stress-induced cytotoxicity in lens epithelial cells
  • important for multiple biological activities including drug resistance, cell differentiation, and oxidative stress response
  • confers the
  • stemness
    properties to normal and cancer stem cells
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism drug
    signaling
    detoxication of anticancer drugs
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • free retinal
  • NAD+
  • protein
  • binding androgen receptor, retinal binding proteins RBP1, RBP2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in non small cell lung cancer
    Susceptibility to development of alcohol and other substance use disorders
    Variant & Polymorphism other
  • ALDH1A1*2 may be associated with protection from the development of alcohol and other substance use disorders
  • Candidate gene
  • activation of ALDH1A1, which efficiently catalyzes the detoxification of lipid-derived toxic aldehydes, and/or prevention of its oxidative modification may be novel therapeutic interventions against oxidative stress-induced lens pathologies
  • could be a prostate cancer stem cells-related marker (measuring its expression might provide a potential approach to study tumorigenesis of prostate cancer and predict outcome of the disease)(Li 2010)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS