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FLASH GENE
Symbol ALDH1A3 contributors: mct - updated : 25-02-2011
HGNC name aldehyde dehydrogenase 1 family, member A3
HGNC id 409
Corresponding disease
MCOP8 microphthalmia, isolated 8
Location 15q26.3      Physical location : 101.420.008 - 101.456.828
Synonym name
  • retinal deshydrogenase 3
  • aldehyde dehydrogenase 6
  • acetaldehyde dehydrogenase 6
  • retinaldehyde dehydrogenase 3
    • Synonym symbol(s) ALDH6, RALDH3, ALDH1A6-PENDING, RALDH-3
    EC.number 1.2.1.5
    DNA
    TYPE functioning gene
    STRUCTURE 36.82 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box) (TATA box)
    Binding site   transcription factor
    text structure
  • putative TATA and CCAAT boxes
  • Sp1 binding site
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3510 56 512 - 2010 20709019
  • ALDH1A3-001
    • 10 splicing - - - - 2010 20709019
  • lacked exons 4 through 6
    • 11 splicing - - - - 2010 20709019
  • lacked exon 5 and part of exon 6
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth    
     salivary gland   highly Homo sapiens
     stomach   highly Homo sapiens
    Urinarykidney   highly Homo sapiens
    Visualeyelens  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    Epithelialsecretoryglandular  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Aldh1a3
    ortholog to Drosophila CG3752
    ortholog to C.elegans K04F1.15
    intraspecies paralog to ALDH1A1
    paralog to ALDH1A2
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • detoxication of aldehydes generated by alcohol metabolism and lipid peroxidation
  • playing a role in the second step in ethanol utilization
  • its transcriptional activation is involved in regulation of the retinoic acid metabolism in the epidermis
  • required for the complete invagination of the ventral optic cup and closure of the choroid fissure
  • decreases potentially insulin secretion from pancreatic beta-cells, whereas it increases glucagon secretion from pancreatic alpha-cells
  • key enzyme in the formation of a retinoic acid gradient along the dorso-ventral axis during early eye development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NAD
    • protein
    cell & other
    REGULATION
    activated by all-trans-retinoic acid in primary keratinocytes
    ASSOCIATED DISORDERS
    corresponding disease(s) MCOP8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in non small cell lung cancer (Moreb 2008)
    constitutional     --over  
    deregulates the balanced mechanisms of insulin and glucagon secretion in the pancreatic islets and may induce beta-cell dysfunction leading to the development of type 2 diabetes
    constitutional       loss of function
    causes anophthalmia and aberrant eye development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • novel cancer stem cells marker with potential clinical prognostic applicability (clear correlation between cancer stem cells prevalence and the development of metastatic breast cancer)
    • Therapy target
    ANIMAL & CELL MODELS
  • Aldh1a3-/- mutant mice embryos begin the process of optic cup formation, but they exhibit ventral retina shortening associated with lens rotation and persistence of primary vitreous