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FLASH GENE
Symbol ALDH1L1 contributors: mct/npt/pgu - updated : 06/11/2008
HGNC name aldehyde dehydrogenase 1 family, member L1
HGNC id 3978
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain (AAs 1–310) shares sequence homology and structural topology with other enzymes utilizing 10-fTHF as a substrate
  • a acyl carrier domain
  • C-terminal domain (AAs 400–902) originates from an aldehyde dehydrogenase-related gene
    • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to Drosophila CG8665
    homolog to C.elegans F36H1.6
    homolog to rattus 10-FTHFDH
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the conversion of 10-formyltetrahydrofolate, NADP and water to tetrahydrofolate, NADPH and carbon dioxide
  • induces phosphorylation of TP53 at Ser6, which is a required step in the activation of apoptosis
  • induces phosphorylation of MAPK8 and MAPK9
  • folate enzyme with tumor suppressor-like properties that inhibits cell motility
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism organic acid
    signaling
    10-formyltetrahydrofolate catabolism
    a component
  • tetramer of four identical 902-AAs subunits, and each is a product of the natural fusion of three unrelated genes corresponding to three distinct functional domain
    • INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADP/NADPH
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in accumulation of formate and subsequent methanol poisoning
    tumoral        
    in down-regulated in several types of cancer on both the mRNA and the protein level
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS