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FLASH GENE
Symbol FTL contributors: mct/npt - updated : 14-03-2018
HGNC name ferritin, light polypeptide
HGNC id 3999
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ferritin-like diiron domain
    • mono polymer heteromer , polymer
    HOMOLOGY
    interspecies homolog to rattus Ftl1 (84.57 pc)
    homolog to murine Ftl2 (83.43 pc)
    Homologene
    FAMILY
  • ferritin family
    • CATEGORY storage
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,inclusion
    basic FUNCTION
  • storage of soluble iron and detoxification involved with the initiation and stabilization of the ferritin-iron core
  • critical for maintaining iron homeostasis and protecting against iron overload (Sammarco 2008)
  • FTL regulates the growth of glioblastoma multiforme (GBM) cells via the GADD45/JNK pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism metal
    signaling sensory transduction/vision
    a component
  • heteromultimeric complex with FTH1, in various tissues and cell-specific proportions, arranged in a hollow shell with a 80A diameter cavity
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PSENEN can interact with ferritin light chain (FTL), an important component of the iron storage protein ferritin
  • iron can increase gamma-secretase activity through promoting the level of FTL that interacts with and stabilizes PSENEN, providing a new molecular link between iron, PSENEN/gamma-secretase and A&
    • 946;PP generation in Alzheimer disease
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CAHF , NBIA3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
  • Ln1 variant produced by the 460InsA mutation
  • low efficiency in iron incorporation
    • tumoral     --over  
    high amounts of FTL-positive microglia/macrophages had a negative prognostic value in astrocytoma
    tumoral     --over  
    expression of FTL was higher in patients with glioblastoma multiforme (GBM) than in those with low-grade glioma
    Susceptibility hereditary ferritinopathies
    Variant & Polymorphism insertion/deletion
  • various nucleotide insertions
  • Ln1 most common variant due to an "a" nucleotide insertion at position 460
  • pathogenic effects of Ln1 expression are more likely due to deregulation of cellular iron homeostasis rather than to protein conformational problems
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS