My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    FTH1 ferritin, heavy polypeptide 1 [ Homo sapiens ]

    Gene ID: 2495, updated on 19-May-2012
    Help top of page

    Summary

    Official Symbol
    FTH1provided by HGNC
    Official Full Name
    ferritin, heavy polypeptide 1provided by HGNC
    Primary source
    HGNC:3976
    Locus tag
    OK/SW-cl.84
    See related
    Ensembl:ENSG00000167996; HPRD:00615; MIM:134770; Vega:OTTHUMG00000166217
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FHC; FTH; PLIF; FTHL6; PIG15; MGC104426
    Summary
    This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Help top of page

    Genomic context

    Location :
    11q13
    Sequence :
    Chromosome: 11; NC_000011.9 (61731757..61735132, complement)
    See FTH1 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene fatty acid desaturase 3 Neighboring gene RAB3A interacting protein (rabin3)-like 1 Neighboring gene bestrophin 1 Neighboring gene ribosomal protein S2 pseudogene 37 Neighboring gene uncharacterized LOC100507521

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Oxidative stress levels in myelodysplastic syndrome patients: their relationship to serum ferritin and haemoglobin values. Saigo K, et al. J Int Med Res, 2011. PMID 22117997.
    2. H ferritin gene silencing in a human metastatic melanoma cell line: a proteomic analysis. Di Sanzo M, et al. J Proteome Res, 2011 Dec 2. PMID 22043922.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. The interaction between ubiquitin C-terminal hydrolase 37 and glucose-regulated protein 78 in hepatocellular carcinoma. Fang Y, et al. Mol Cell Biochem, 2012 Jan. PMID 21800051.
    5. FTH1 binds to Daxx and inhibits Daxx-mediated cell apoptosis. Liu F, et al. Mol Biol Rep, 2012 Feb. PMID 21573799.

    See all (84) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. FTH1 can inhibit the activation of the JNK signaling pathway and can bind to Daxx, inhibiting Daxx-mediated apoptosis.
      Title: FTH1 binds to Daxx and inhibits Daxx-mediated cell apoptosis.
    2. H ferritin silenced human metastatic melanoma cells are characterized by a decreased growth activity, a reduced invasiveness, and a reduced cell adhesion capability.
      Title: H ferritin gene silencing in a human metastatic melanoma cell line: a proteomic analysis.
    3. There was a positive correlation between reactive oxygen species levels and serum ferritin levels in myelodysplastic syndrome patients
      Title: Oxidative stress levels in myelodysplastic syndrome patients: their relationship to serum ferritin and haemoglobin values.
    4. results showed the association of secreted IL-10, FHC and iron homoeostasis in Chlamydia trachomatis-infected HeLa-229 cells
      Title: Ferritin heavy chain-mediated iron homoeostasis regulates expression of IL-10 in Chlamydia trachomatis-infected HeLa cells.
    5. FTH1 is a functional target gene of the BACH1 transcription factor according to ChIP-seq and knockdown analysis in HEK 293 cells.
      Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
    6. Results illustrate how silencing H-ferritin can effectively sensitize tumors to chemotherapy.
      Title: Heavy chain ferritin siRNA delivered by cationic liposomes increases sensitivity of cancer cells to chemotherapeutic agents.
    7. High ferritin is associated with breast cancer.
      Title: Role of ferritin alterations in human breast cancer cells.
    8. The study shows the facile assembly of mutant FTL and FTH1 subunits into soluble ferritin heteropolymers, but their ability to incorporate iron was significantly reduced relative to wild-type-FTL/FTH1 heteropolymers.
      Title: Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration.
    9. transit-site-deficient mutants of human H ferritin, E140A and E140Q, were prepared and their iron oxidation kinetics was analyzed.
      Title: The universal mechanism for iron translocation to the ferroxidase site in ferritin, which is mediated by the well conserved transit site.
    10. Inhibition of osteoblast activity, mineralization, and specific gene expression is attributed to the ferroxidase activity of ferritin.
      Title: Ferritin ferroxidase activity: a potent inhibitor of osteogenesis.
    Submit: New GeneRIF Correction See all (32)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Iron overload, autosomal dominant

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002023.1 NP_002405.1 CD99    BIND  PubMed CD99 interacts with FTH1. 
    NP_002023.2 CAB46677.1     BIND  PubMed NS5A interacts with FTH1. 
    P02794 Bromodomain containing 7 BRD7    HPRD  PubMed  
    P02794 P14209 CD99    HPRD  PubMed  
    P02794 Q14194 CRMP1    HPRD  PubMed  
    P02794 Q99062 CSF3R    HPRD  PubMed  
    P02794 Q9HB65 ELL3    HPRD  PubMed  
    P02794 P02794 FTH1    HPRD  PubMed  
    P02794 P02792 FTL    HPRD  PubMed  
    P02794 P51116 FXR2    HPRD  PubMed  
    P02794 Q8NBJ4 GOLM1    HPRD  PubMed  
    P02794 Q8IWV7 UBR1    HPRD  PubMed  
    BioGRID:108773 BioGRID:118883 BRD7    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:107790 CRMP1    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:216498 Cep55    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108773 BioGRID:123198 ELL3    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:108789 FTL    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:114890 FXR2    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:119432 GOLM1    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:115295 NR1I3    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:109165 NR3C1    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:108772 NR5A2    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:119018 PACSIN1    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108773 BioGRID:119978 TOLLIP    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:204197 Trim28    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108773 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108773 BioGRID:128238 UBR1    BioGRID  PubMed Two-hybrid 
    BioGRID:108773 BioGRID:119509 UCHL5    BioGRID  PubMed Affinity Capture-MS 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the FTH1 gene: The FTH1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, C.elegans, A.thaliana, and rice.

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ferric iron binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    ferroxidase activity TAS
    Traceable Author Statement
    more info
    		  
    iron ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
    		  
    cellular membrane organization TAS
    Traceable Author Statement
    more info
    		  
    immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    intracellular sequestering of iron ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    iron ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of necrotic cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    post-Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    intracellular ferritin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    ferritin heavy chain
    Names
    ferritin heavy chain
    apoferritin
    ferritin H subunit
    placenta immunoregulatory factor
    proliferation-inducing protein 15
    cell proliferation-inducing gene 15 protein
    NP_002023.2
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008346.1 RefSeqGene

      Range
      5001..8376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002032.2 → NP_002023.2  ferritin heavy chain

      Status: REVIEWED

      Source sequence(s)
      BC000857, BM971420, BQ887222, M97164
      Consensus CDS
      CCDS41655.1
      UniProtKB/Swiss-Prot
      P02794
      Related
      ENSP00000273550, OTTHUMP00000232197, ENST00000273550, OTTHUMT00000388444
      Conserved Domains (2) summary
      cd01056
      Location:14 – 174
      Blast Score: 695
      Euk_Ferritin; eukaryotic ferritins
      pfam00210
      Location:18 – 159
      Blast Score: 328
      Ferritin; Ferritin-like domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      61731757..61735132, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      58059745..58063103, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP003733.5 (14517..17892) None
    genomic CH471076.1 EAW73989.1
      EAW73990.1
      EAW73991.1
      EAW73992.1
      EAW73993.1
      EAW73994.1
      EAW73995.1
      EAW73996.1
      EAW73997.1
      EAW73998.1
      EAW73999.1
      EAW74000.1
      EAW74001.1
    genomic DQ496108.1 ABF47097.1
    genomic M14212.1 AAA52438.1
    genomic X03487.1 CAA27205.1
    mRNA AB062402.1 BAB93489.1
    mRNA AF088851.1 AAF89523.1
    mRNA AK311818.1 None
    mRNA AY258285.1 AAP82230.1
    mRNA BC000857.1 AAH00857.1
    mRNA BC001399.2 AAH01399.1
    mRNA BC011359.2 AAH11359.1
    mRNA BC013724.2 AAH13724.1
    mRNA BC015156.1 AAH15156.1
    mRNA BC015946.1 None
    mRNA BC016009.1 AAH16009.1
    mRNA BC016857.1 AAH16857.1
    mRNA BC020300.1 None
    mRNA BC035441.1 None
    mRNA BC063514.1 AAH63514.1
    mRNA BC066341.1 AAH66341.1
    mRNA BC066961.1 AAH66961.1
    mRNA BC070494.1 AAH70494.1
    mRNA BC073750.1 AAH73750.1
    mRNA BC104643.1 AAI04644.1
    mRNA BC105802.1 AAI05803.1
    mRNA BM971420.1 None
    mRNA BQ887222.1 None
    mRNA D28463.1 BAA05829.1
    mRNA L20941.1 AAA35833.1
    mRNA M11146.1 AAA52437.1
    mRNA M12937.1 AAA35830.1
    mRNA M15383.1 AAA52479.1
    mRNA M97164.1 AAA35832.1
    mRNA X00318.1 CAA25086.1
    other-genetic DQ891113.2 ABM82039.1
    other-genetic DQ894293.2 ABM85219.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02794.2 GenPept UniProtKB/Swiss-Prot:P02794
    Q6NS36 GenPept UniProtKB/TrEMBL:Q6NS36
    Q6NZ44 GenPept UniProtKB/TrEMBL:Q6NZ44
    Q8TD27 GenPept UniProtKB/TrEMBL:Q8TD27
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...