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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
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