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FLASH GENE
Symbol HFE contributors: mct - updated : 24-10-2011
HGNC name hemochromatosis
HGNC id 4886
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an immunoglobulin-like C1-type domain
  • a class I histocompatibility antigen domain
    • HOMOLOGY
    interspecies homolog to murine Hfe (69.36 pc)
    homolog to rattus Hfe (69.25 pc)
    Homologene
    FAMILY MHC class I family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text associated with TFRC in crypt cells
    basic FUNCTION
  • soluble form (regulating cellular iron transport) and a non soluble form (involved in iron deficiency)
  • influencing serum transferrin saturation in heterozygotes C282Y or H63D
  • influences the functional properties of TFR2, suggesting a model in which the interaction of these proteins might influence signal transduction to hepcidin)
  • TFR2/HFE complex is required for transcriptional regulation of hepcidin by holo-TF
  • both HFE and TFR2 are necessary for regulation of hepcidin (HAMP) expression
  • TFR2 and HFE are involved in holotransferrin-dependent signaling for the regulation of FURIN which involved Erk phosphorylation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism metal
    signaling
    iron
    a component
  • negative modulator of the uptake of transferrin-bound iron from plasma
  • complexing with beta 2 microglobulin and transferrin receptor (TFRC)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transferrin receptor (TFRC)
    • cell & other
    REGULATION
    inhibited by HFE protein expression is negatively regulated by the antisense transcript in vitro
    ASSOCIATED DISORDERS
    corresponding disease(s) HFE , VGP
    Susceptibility
    Variant & Polymorphism SNP
  • HFE C282Y and H63D polymorphism inducing a variation in iron status: serum transferin saturation is more affected than is serum ferritin.
    • Candidate gene for amyotrophic lateral sclerosis
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knock-out Hfe -/- mice
  • iron overload due to deletion of Tfr2 in mice is more severe than that due to Hfe, and loss of both molecules results in pronounced iron overload