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FLASH GENE
Symbol FTH1 contributors: mct/npt - updated : 16-02-2018
HGNC name ferritin, heavy polypeptide 1
HGNC id 3976
Corresponding disease
IRO iron overload
Location 11q12.2      Physical location : 61.731.758 - 61.735.132
Synonym name
  • apoferritin
  • placenta immunoregulatory factor
  • proliferation-inducing protein 15
  • ferritin H subunit
  • Synonym symbol(s) FTH, FTHL6, MGC104426, PIG15, PLIF, FHC
    EC.number 1.16.3.1
    DNA
    TYPE functioning gene
    STRUCTURE 3.37 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure
  • a 3'utr containing a region of antisense complementarity to the 3' end of BEST1
  • iron responsive element
  • MAPPING cloned Y linked   status confirmed
    Map see CD6 , BEST1
    Physical map
    FLJ20487 11q12.3 hypothetical protein FLJ20487 FLJ32771 11q12.3 IIIG9 protein SYT7 11q12-q13.1 synaptotagmin VII LOC390205 11 similar to leucine-rich repeat-containing 10; leucine-rich repeat protein; leucine-rich containing 10 RPLP0P2 11cen-q12 ribosomal protein, large, P0 pseudogene 2 C11orf11 11q13.1 chromosome 11 open reading frame 11 C11orf9 11q12-q13.1 chromosome 11 open reading frame 9 C11orf10 11q12-q13.1 chromosome 11 open reading frame 10 FEN1 11q13.1 flap structure-specific endonuclease 1 FADS1 11q12.2-q13.1 fatty acid desaturase 1 FADS2 11q12-q13.1 fatty acid desaturase 2 FADS3 11q12-q13.1 fatty acid desaturase 3 RAB3IL1 11q12-q13.1 RAB3A interacting protein (rabin3)-like 1 VMD2 11q12-q13.1 vitelliform macular dystrophy (Best disease, bestrophin) FTH1 11q13.1 ferritin, heavy polypeptide 1 LOC387774 11 LOC387774 LOC390206 11 similar to 40S ribosomal protein S2 INCENP 11q12-q13 inner centromere protein antigens 135/155kDa LOC283236 11q12.3 similar to eukaryotic translation elongation factor 1 delta isoform 1; guanine nucleotide exchange protein SCGB1D1 11q13 secretoglobin, family 1D, member 1 SCGB2A1 11q13 secretoglobin, family 2A, member 1 SCGB1D2 11q13 secretoglobin, family 1D, member 2 SCGB2A2 11q13 secretoglobin, family 2A, member 2 ASRGL1 11q12.3 asparaginase like 1 SCGB1A1 11q12.2-q13.1 secretoglobin, family 1A, member 1 (uteroglobin) MGC5395 11q12.2 hypothetical protein MGC5395
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1245 21 183 - 2017 28754384
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage Homo sapiens
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Fth
    Homologene
    FAMILY
  • the non-heme iron protein family
  • CATEGORY regulatory , storage
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • iron-storage protein, storing iron in a soluble nontoxic, readily available form
  • specific ferroxidase activity allowing rapid uptake of iron
  • functioning (cytoplasmic) acotinase when binding a (4Fe-4S) cluster
  • loss of the cluster transforms the molecules into a iron responsive protein (IRP) repressing translation when cellular iron is low
  • protect the nucleus from oxidative damage (Storr 2009)
  • critical for maintaining iron homeostasis and protecting against iron overload (Sammarco 2008)
  • with TF may serve as redundant mechanisms for the uptake of iron by cells (Li 2010)
  • is the major source of iron for oligodendrocytes
  • FTH1 and DAXX are able to participate in apoptosis pathway through JNK signal molecule and FTH1 can inhibit this pathway
  • can store and release iron, therefore it prevents the cell from damage caused by iron-dioxygen reactions as well as it provides iron for biological processing
  • core subunit of the iron storage protein ferritin and is related to the pathogenesis of malignant diseases
  • has ferroxidase activity that is required for iron incorporation and limiting toxicity
  • protective role of FTH1 and critical role of proximal tubule FTH1 in iron trafficking in acute kidney injury (AKI)
  • has ferroxidase activity (converting Fe(II) to Fe(III)
  • iron binding protein that form multi-subunit nanotype iron storage structures and prevent oxidative stress induced apoptosis
  • iron-dependent, highly-specific formation of the remarkably stable FTH1-NCOA4 complex may be important for the characterization of the mechanism of ferritinophagy 7)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism metal
    signaling
    a component
  • heteromultimeric complex with FTL both in various tissue and cell specific proportions, arranged in a hollow shell with a 80A diameter cavity
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • iron Fe2+,Fe3+
  • protein
  • IRP binding to the IRE to the ferritin receptor and erythroid aminolevulinic synthase, enabling tight coordination between cellular iron uptake and the synthesis of ferritin and heme
  • interacting with AAAS (fibroblasts from triple A patients (with known AAAS mutations) lack nuclear FTH1, suggesting that the nuclear translocation of FTH1 is defective) (Storr 2009)
  • TFRC ligand (after binding to TFRC, enters not only endosomes but also lysosomes)(Li 2010)
  • NCOA4 directly binds ferritin heavy chain-1 (FTH1) to target the iron-binding ferritin complex
  • direct association via a key surface arginine in FTH1 and a C-terminal element in NCOA4 is required for delivery of ferritin to the lysosome via autophagosomes
  • cell & other
    REGULATION
    inhibited by low cellular iron
    repressed by C-Myc
    ASSOCIATED DISORDERS
    corresponding disease(s) IRO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer
    constitutional       loss of function
    in most cells of the forebrain including cells of the choroid plexus caused accumulation of cerebrospinal fluid in the lateral ventricles and the subarachnoid space
    tumoral     --over  
    is closely related to the development of leukemia/lymphoma, which could have implications for the prevention of malignant hematologic diseases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a novel and reliable marker for macrophages and early erythroid precursors, and may be of clinical utility in the diagnosis of diseases associated with these two cell types
  • Therapy target
    ANIMAL & CELL MODELS