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FLASH GENE
Symbol TF contributors: mct/pgu - updated : 17-06-2010
HGNC name transferrin
HGNC id 11740
Corresponding disease
HTF hypotransferrinemia, familial
Location 3q22.1      Physical location : 133.464.976 - 133.497.849
Synonym name
  • siderophilin
  • serotransferrin precursor (siderophilin)
  • beta-1 metal-binding globulin
  • Synonym symbol(s) PRO1557, TRFE, PRO2086, DKFZp781D01562
    DNA
    TYPE functioning gene
    STRUCTURE 32.84 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    text with three predominant variants TFc1,TFc2 (P570S),TFc3 (PMID: 9521580)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 2808 - 698 - 1984 6322780
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousbrain   highly
    Visualeyeanterior segmentcornea highly
    cell lineage
    cell lines
    fluid/secretion serum
    at STAGE
    physiological period embryo, fetal
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two peptidase s60 domains
  • a kinetically significant anion binding (KISAB) site in the N-lobe
  • conjugated GlycoP
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Trf (74.1pc)
    homolog to rattus Tf (73.9pc)
    Homologene
    FAMILY
  • transferrin family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • transporting iron from the intestine, reticuloendothelial system and liver parenchymal cells to all proliferating cells in the body
  • having a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter/allergens from serum
  • acquires ferric iron from the diet and holds it tightly within the cleft of each lobe (thereby preventing its hydrolysis)
  • bilobal iron-binding proteins that play the crucial role of binding ferric iron and keeping it in solution, thereby controlling the levels of this important metal
  • with FTH1 may serve as redundant mechanisms for the uptake of iron by cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling
  • TF/TFR2 -mediated iron transport pathway in mitochondria of substantia nigra dopamine neurons, disrupted in Parkinson disease, and leading to iron accumulation
  • a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • iron Fe3+
  • protein
  • interacting with TFRC through a loop in the N-lobe of serum transferrin that is critical for binding to the transferrin receptor
  • interacting with TFR2 alpha and TFR1 (binding of TFR2alpha with TF is about 50 times lower than that for the binding of TF to TFR1)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTF
    Susceptibility
    Variant & Polymorphism SNP
  • SNP in TF are associated with increased risk of osteonecrosis of the femoral head
  • genetic variants in TF and HFE may play a role in Alzeihmer's disease pathology
  • Candidate gene
  • to asthma susceptibility
  • Marker
  • in sarcoidosis, high levels of TF in bronchoalveolar lavage but low levels in serum, might reflect the disease activity
  • Therapy target
    ANIMAL & CELL MODELS