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FTH1 Gene

protein-coding   GIFtS: 68
GCID: GC11M061731

Ferritin, Heavy Polypeptide 1


(Previous symbol: FTHL6)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ferritin, Heavy Polypeptide 11 2     FTH2 3
FTHL61 2 3 5     EC 1.16.3.13 8
apoferritin1 2     HFE52 5
Placenta Immunoregulatory Factor1 2     FHC2
Proliferation-Inducing Protein 151 2     PIG152
Cell Proliferation-Inducing Gene 15 Protein2 3     PLIF2
Ferritin H Subunit2 3     Ferritin Heavy Chain2

External Ids:    HGNC: 39761   Entrez Gene: 24952   Ensembl: ENSG000001679967   OMIM: 1347705   UniProtKB: P027943   

Export aliases for FTH1 gene to outside databases

Previous GC identifers: GC11M064245 GC11M063307 GC11M061982 GC11M061507 GC11M061488 GC11M058061


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FTH1 Gene:
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)

GeneCards Summary for FTH1 Gene:
FTH1 (ferritin, heavy polypeptide 1) is a protein-coding gene. Diseases associated with FTH1 include iron overload, autosomal dominant, and superficial siderosis. GO annotations related to this gene include ferroxidase activity and iron ion binding. An important paralog of this gene is FTMT.

UniProtKB/Swiss-Prot: FRIH_HUMAN, P02794
Function: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has
ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.
Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney
(By similarity)

Gene Wiki entry for FTH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FTH1 gene promoter:
         RP58   STAT1   AP-1   Pax-5   Nkx2-5   Gfi-1   GATA-1   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFTH1 promoter sequence
   Search Chromatin IP Primers for FTH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FTH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q13

FTH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FTH1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061731:  view genomic region     (about GC identifiers)

Start:
61,727,190 bp from pter      End:
61,735,132 bp from pter
Size:
7,943 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FRIH_HUMAN, P02794 (See protein sequence)
Recommended Name: Ferritin heavy chain  
Size: 183 amino acids; 21226 Da
Subunit: Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major
chain can be light or heavy, depending on the species and tissue type. In the human liver, the heavy chain is
predominant. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a
central cavity into which the insoluble mineral iron core is deposited
Sequence caution: Sequence=AAI05803.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for FTH1 (see all 19):
1FHA (3D)        2CEI (3D)        2CHI (3D)        2CIH (3D)        2CLU (3D)        2CN6 (3D)    
Secondary accessions: B3KNR5 Q3KRA8 Q3SWW1

Explore the universe of human proteins at neXtProt for FTH1: NX_P02794

Explore proteomics data for FTH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys147
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FTH1 (P02794) (see all 12)
     DPHLCDF  CALHLEK  LEKNVNQ  EYLFDKH 


    See FTH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002023.2  
    ENSEMBL proteins: 
     ENSP00000431659   ENSP00000431575   ENSP00000433470   ENSP00000273550   ENSP00000432223  
     ENSP00000434403   ENSP00000433321   ENSP00000435111   ENSP00000436947  
    Reactome Protein details: P02794

    FTH1 Human Recombinant Protein Products:

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    Novus Biologicals FTH1 Lysates
    Sino Biological Recombinant Protein for FTH1
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    ProSpec Recombinant Protein for FTH1
    Browse Proteins at Cloud-Clone Corp.

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    Abcam antibodies for FTH1 (P02794, P02792)
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    LSBio Antibodies in human, mouse, rat for FTH1

    FTH1 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR009040 Ferritin-like_diiron
     IPR012347 Ferritin-rel
     IPR001519 Ferritin
     IPR014034 Ferritin_CS
     IPR009078 Ferritin-like_SF

    Graphical View of Domain Structure for InterPro Entry P02794

    ProtoNet protein and cluster: P02794

    3 Blocks protein domains:
    IPB001519 Ferritin
    IPB008331 Ferritin and Dps
    IPB014034 Ferritin


    UniProtKB/Swiss-Prot: FRIH_HUMAN, P02794
    Similarity: Belongs to the ferritin family
    Similarity: Contains 1 ferritin-like diiron domain


    FTH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FRIH_HUMAN, P02794
    Function: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has
    ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.
    Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney
    (By similarity)
    Catalytic activity: 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O

         Genatlas biochemistry entry for FTH1:
    ferritin,heavy polypeptide 1,21.1kDa,liver-like,isolated from brain,iron-storage protein,with a 3'utr containing a
    region of antisense complementarity to the 3' end of VMD2

         Enzyme Number (IUBMB): EC 1.16.3.11 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004322ferroxidase activity IEA--
    GO:0005506iron ion binding TAS3020541
    GO:0005515protein binding IPI16169070
    GO:0008199ferric iron binding IEA--
         
    FTH1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Fth1):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  nervous system 

    FTH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FTH1: Fth1tm1.2Lck Fth1tm1Kjt

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FTH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FTH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FTH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FTH1

    miRNA
    Products:
        
    miRTarBase miRNAs that target FTH1:
    hsa-mir-16-5p (MIRT031951), hsa-mir-26b-5p (MIRT030032), hsa-mir-17-5p (MIRT050899), hsa-mir-941 (MIRT036560)

    Block miRNA regulation of human, mouse, rat FTH1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate FTH1:
    hsa-miR-548m hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidFTH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FTH1
    Predesigned siRNA for gene silencing in human, mouse, rat FTH1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for FTH1 (see all 6)
    OriGene ORF clones in mouse, rat for FTH1
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    GenScript: all cDNA clones in your preferred vector: FTH1 (NM_002032)
    Sino Biological Human cDNA Clone for FTH1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FTH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FTH1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FTH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular4
    endosome3
    lysosome3
    plasma membrane3
    vacuole3
    cytoskeleton2
    endoplasmic reticulum2
    golgi apparatus2
    mitochondrion2
    nucleus2
    chloroplast1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005829cytosol TAS--
    GO:0008043intracellular ferritin complex TAS6589621
    GO:0070062extracellular vesicular exosome IDA19056867

    FTH1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FTH1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging by Class A Receptors0.00
    3Insulin receptor recycling
    Iron uptake and transport0.70
    4Metabolism of porphyrins
    Porphyrin and chlorophyll metabolism0.56
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for FTH1
        Glucose / Energy Metabolism

    2 BioSystems Pathways for FTH1
        Iron metabolism in placenta
    Validated targets of C-MYC transcriptional repression


    3 Reactome Pathways for FTH1
        Scavenging by Class A Receptors
    Golgi Associated Vesicle Biogenesis
    Iron uptake and transport


    2 Kegg Pathways  (Kegg details for FTH1):
        Porphyrin and chlorophyll metabolism
    Mineral absorption


    FTH1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FTH1: 
              Oxidative Stress in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FTH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FTH1 (P027941, 2, 3 ENSP000002735504) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FTLP027921, 3, ENSP000003665254EBI-713259,EBI-713279 I2D: score=7 STRING: ENSP00000366525
    MAXP612441, 3, ENSP000003514904EBI-713259,EBI-751711 I2D: score=1 STRING: ENSP00000351490
    UBCP0CG482, 3, ENSP000003448184MINT-3382587 I2D: score=2 STRING: ENSP00000344818
    EIF1ADQ8N9N83, ENSP000003091754I2D: score=5 STRING: ENSP00000309175
    ELL3Q9HB653, ENSP000003203464I2D: score=4 STRING: ENSP00000320346
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006826iron ion transport IEA--
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006880intracellular sequestering of iron ion IDA9924025
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006955immune response ISS--

    FTH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FTH1 (FRIH)

    4 HMDB Compounds for FTH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--
    IronArmco iron (see all 19)7439-89-6--
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for FTH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Iron DextranDexferrum (see all 2)9004-66-4targetother17139284 17016423

    Selected Novoseek inferred chemical compound relationships for FTH1 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ferrihydrite 73 4 1764477 (1), 8422424 (1), 15826089 (1), 7738539 (1)
    iron 69.8 67 9518065 (3), 7951057 (2), 12504902 (2), 7738177 (2) (see all 34)
    ferrous ammonium sulfate 69.5 5 1536576 (4)
    apotransferrin 54.2 1 8464361 (1)
    deferoxamine 51.3 26 14987847 (6), 9518065 (1), 16140207 (1)
    h2o2 38.7 6 9518065 (1), 11535059 (1), 8221666 (1), 18164668 (1) (see all 5)
    ferricyanide 37.7 7 17073407 (1), 14577762 (1)
    fe2+ 35 1 1679940 (1)
    hepes 30 3 1770974 (1), 11595385 (1)
    halothane 22.1 2 15791007 (1)



    FTH1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FTH1 gene: 
    NM_002032.2  

    Unigene Clusters for FTH1:

    Ferritin, heavy polypeptide 1
    Hs.524910  [show with all ESTs], Hs.645560
    Unigene Representative Sequences: BM905227, BC105802
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529191 ENST00000529631 ENST00000530019 ENST00000273550(uc001nsu.3)
    ENST00000532829 ENST00000534180 ENST00000526640 ENST00000532601 ENST00000534719
    ENST00000533138 ENST00000529548

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    hsa-miR-548m hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidFTH1 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FTH1
      QuantiTect SYBR Green Assays in human, mouse, rat FTH1
      QuantiFast Probe-based Assays in human, mouse, rat FTH1

    Additional mRNA sequence: BC105802.1 

    Selected DOTS entries (see all 196):

    DT.100736732  DT.92056926  DT.421032  DT.91913296  DT.97867955  DT.100736743  DT.91740037  DT.100736685 
    DT.92017084  DT.100870650  DT.100060605  DT.100736736  DT.100034995  DT.91913590  DT.92030996  DT.95365175 
    DT.100042429  DT.91913682  DT.100854029  DT.100736690  DT.95269284  DT.101988005  DT.100736720  DT.100637411 

    Selected AceView cDNA sequences (see all 360):

    AU185848 BQ073234 BQ343607 BC001399 CB151580 CR605580 AA112250 BM706359 
    BC015156 AA824623 BM709112 BI713721 CA867491 CR599520 AA083672 CR626495 
    AW160949 M15383 BC070494 AI752437 BU736834 CB069374 BM508193 CR610503 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FTH1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5
    SP1:                                          
    SP2:                    -                     
    SP3:                                          


    ECgene alternative splicing isoforms for FTH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FTH1 expression in normal human tissues (normalized intensities)      FTH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGGTTTC
    FTH1 Expression
    About this image


    FTH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)
             Lens
    FTH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FTH1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.524910 Hs.645560

    UniProtKB/Swiss-Prot: FRIH_HUMAN, P02794
    Tissue specificity: Expressed in the liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FTH1: 
              Oxidative Stress in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FTH1
    OriGene qSTAR qPCR primer pairs in human, mouse for FTH1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FTH1
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    QuantiFast Probe-based Assays in human, mouse, rat FTH1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FTH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FTH1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fth11 , 5 ferritin heavy chain 11, 5 90.37(n)1
    93.33(a)1
      19 (6.23 cM)5
    143191  NM_010239.21  NP_034369.11 
     99827035 
    chicken
    (Gallus gallus)
    Aves FTH11 ferritin, heavy polypeptide 1 82.87(n)
    91.06(a)
      395970  NM_205086.1  NP_990417.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    91(a)
    1 → many
    GL343235.1(2273171-2283525)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC645582 hypothetical protein MGC64558 76.44(n)    BC056858.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fth12 ferritin, heavy polypeptide 1 74.4(n)   58108  AF295373.1 
    rice
    (Oryza sativa)
    Liliopsida Os.120962 Oryza sativa ferritin mRNA, complete cds 71.79(n)    AF370029.1 


    ENSEMBL Gene Tree for FTH1 (if available)
    TreeFam Gene Tree for FTH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FTH1 gene
    FTMT2  FTHL172  FTL2  
    5 SIMAP similar genes for FTH1 using alignment to 12 protein entries:     FRIH_HUMAN (see all proteins):
    FTMT    FTH1P19    FTHL17    FTL variant    FTL

    FTH1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for FTH1 (see all 27)
    PGOHUM00000248325 PGOHUM00000247834 PGOHUM00000258072 PGOHUM00000258079 PGOHUM00000244675


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FTH1 (see all 96)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1951541,2
    C,F,A,H--61654545(-) AATCAA/GTTTTC 1 -- int122Minor allele frequency- G:0.07MN NS EA NA WA CSA 1929
    rs1152805771,2
    F--61654922(+) ACGCTG/AGCATT 1 -- int11Minor allele frequency- A:0.08WA 118
    rs1907422481,2
    --61654931(+) TTTAGG/TGCCAA 1 -- int10--------
    rs1822191011,2
    --61655008(+) CAGGCC/TGGCAG 1 -- int10--------
    rs1470742811,2
    C--61655052(+) TCCTT-/AAAAAA 1 -- int10--------
    rs1140392361,2
    F--61655152(+) GAGAAG/ATCCTC 1 -- int11Minor allele frequency- A:0.10WA 118
    rs1147789791,2
    C,F--61655693(+) CCGCCC/AGCCCC 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1858354901,2
    --61655798(+) GCGGGG/TACCGG 1 -- us2k10--------
    rs343163191,2
    C--61655902(+) ACCCC-/ACCCCC 1 -- us2k10--------
    rs1148658491,2
    C--61655904(+) CCCCCC/TCCCCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FTH1 (61727190 - 61735132 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FTH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897617CNV Loss21882294

    Human Gene Mutation Database (HGMD): FTH1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FTH1
    DNA2.0 Custom Variant and Variant Library Synthesis for FTH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 134770   
    OMIM disorders: 615517  
    UniProtKB/Swiss-Prot: FRIH_HUMAN, P02794
  • Hemochromatosis 5 (HFE5) [MIM:615517]: A disorder of iron metabolism characterized by iron overload.
    Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses
    including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe
    effects of the disease usually do not appear until after decades of progressive iron loading. Note=The disease is
    caused by mutations affecting the gene represented in this entry. In a Japanese family affected by HFE5, a single
    point mutation has been detected in the iron-responsive element (IRE) in the 5'-UTR of FTH1 mRNA. This mutation
    leads to an increased binding affinity for iron regulatory protein and thereby to the efficient suppression of
    mRNA translation

  • Selected diseases for FTH1 (see all 65):    About MalaCards
    iron overload, autosomal dominant    superficial siderosis    superficial siderosis of the central nervous system    hemochromatosis, type 5
    allergic encephalomyelitis    siderosis    triple-a syndrome    exanthem
    immune-complex glomerulonephritis    epithelioid sarcoma    hypertensive retinopathy    radiculopathy
    spondylolisthesis    hemosiderosis    vitamin b12 deficiency    hypersensitivity reaction type ii disease
    pneumoconiosis    spinal stenosis    porphyria cutanea tarda    hiv/aids

    Selected diseases from the University of Copenhagen DISEASES database for FTH1 (see all 21):
    Anemia     Hemochromatosis     Nutrition disease     Thalassemia
    Siderosis     Hemophagocytic lymphohistiocytosis     Kidney disease     Liver disease
    Hemosiderosis     Cancer     Hepatitis C     Spondylolisthesis
    Porphyria cutanea tarda     Vascular disease     Brain disease     Diabetes mellitus
    Neurodegenerative disease     Arthritis     Vitamin B12 deficiency     Exanthem

    FTH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for FTH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serum sickness 50.9 2 15574507 (1), 17344423 (1)
    iron overload 27.3 2 1581551 (1), 8009283 (1)
    tumors 4.38 1 10554036 (1)
    breast cancer 0 1 11821435 (1)

    Genetic Association Database (GAD): FTH1
    Human Genome Epidemiology (HuGE) Navigator: FTH1 (3 documents)

    Export disorders for FTH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FTH1 gene, integrated from 10 sources (see all 240):
    (articles sorted by number of sources associating them with FTH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene. (PubMed id 3020541)1, 2, 3 Hentze M.W.... Klausner R.D. (Proc. Natl. Acad. Sci. U.S.A. 1986)
    2. Sequence of a cDNA encoding the ferritin H-chain from an 11-week-old human fetal brain. (PubMed id 7916709)1, 2, 9 Dhar M.... Joshi J.G. (Gene 1993)
    3. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. (PubMed id 21829377)1, 4 Lemaitre R.N....Steffen L.M. (PLoS Genet. 2011)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Analysis of ferritin genes in Parkinson disease. (PubMed id 17970701)1, 4 Foglieni B....Cremonesi L. (Clin. Chem. Lab. Med. 2007)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. (PubMed id 14615048)1, 4 Felletschin B....Berg D. (Neurosci. Lett. 2003)
    10. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. (PubMed id 11389486)1, 2 Kato J....Niitsu Y. (Am. J. Hum. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2495 HGNC: 3976 AceView: FTH1 Ensembl:ENSG00000167996 euGenes: HUgn2495
    ECgene: FTH1 Kegg: 2495 H-InvDB: FTH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FTH1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Ferritin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FTH1 gene:
    Search GeneIP for patents involving FTH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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