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FLASH GENE
Symbol ALDH1A1 contributors: mct/npt - updated : 29-11-2023
HGNC name aldehyde dehydrogenase 1 family, member A1
HGNC id 402
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
  • function of ALDH1A1 confers the "stemness" properties to normal and cancer stem cells
  • ALDH1A1 regulates melanogenesis by catalysing the conversion of 9-cis retinal to 9-cis retinoic acid.
  • is a multifunctional enzyme with dehydrogenase, esterase, and anti-oxidant activities
  • is also a major regulator of retinoic acid (RA) signaling, which is critical for normal brain homeostasis
    • 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
  • ALDH1A1 is a critical meditator of TAZ-induced tumorigenic and cancer stem cells (CSCs) phenotypes in lung cancer
  • neural retina-specific ALDH1A1 controls dorsal choroidal vascular development via SOX9 expression in retinal pigment epithelial cells
  • DDB2, functioning as a transcription repressor, can abrogate ovarian Cancer stem cells (CSCs) properties by downregulating ALDH1A1 expression
  • binding androgen receptor, retinal binding proteins RBP1, RBP2
  • is both physiological and pathological target of CDK5
  • PRMT3 inhibits the enzymatic activity of ALDH1A1 and negatively regulates the expression of retinoic acid responsive genes in a methyltransferase activity independent manner
    • 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
    tumoral     --over  
    in acute myeloid leukemia patients of the poor prognosis risk group
    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
  • global elimination of Aldh1a1 and Aldh1a2 genes in mice blocks spermatogenesis but does not appear to affect viability
  • Aldh1a1-/- mice showed choroidal hypoplasia with insufficient vascularization in the dorsal region