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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FTH1 Gene

protein-coding   GIFtS: 67
GCID: GC11M061731

Ferritin, Heavy Polypeptide 1


(Previous symbol: FTHL6)
Alzheimer's & Parkinson's Diseases Congress
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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)
About This Section

Aliases
Ferritin, Heavy Polypeptide 11 2     FTH2 3
FTHL61 2 3 5     EC 1.16.3.13 8
apoferritin1 2     FHC2
Placenta Immunoregulatory Factor1 2     PIG152
Proliferation-Inducing Protein 151 2     PLIF2
Cell Proliferation-Inducing Gene 15 Protein2 3     Ferritin Heavy Chain2
Ferritin H Subunit2 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 superficial siderosis, and superficial siderosis of the central nervous system, and among its related super-pathways are Golgi Associated Vesicle Biogenesis and Transferrin endocytosis and recycling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FTH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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. 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
Miscellaneous: In human liver the heavy chain is the major chain
Sequence caution: Sequence=AAI05803.1; Type=Erroneous initiation;
6/19 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02794

  • 4/12 DME Specific Peptides for FTH1 (P02794) (see all 12)
     DPHLCDF  CALHLEK  LEKNVNQ  EYLFDKH 

    FTH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FTH1 Protein Expression
    REFSEQ proteins: NP_002023.2  
    ENSEMBL proteins: 
     ENSP00000431659   ENSP00000431575   ENSP00000433470   ENSP00000273550   ENSP00000432223  
     ENSP00000434403   ENSP00000433321   ENSP00000435111   ENSP00000436947  
    Reactome Protein details: P02794
    Human Recombinant Protein Products for FTH1: 
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    ProSpec Recombinant Protein for FTH1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0008043intracellular ferritin complex TAS6589621

    FTH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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--
    GO:0016491oxidoreductase activity ----
         
    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 - Custom generated mouse model solutions for FTH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FTH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FTH1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FTH1 About   (see all 11)                                                                                              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
    2Insulin receptor recycling
    Iron uptake and transport0.69
    3Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.63
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5Glucuronidation
    Porphyrin and chlorophyll metabolism0.38

    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


    5/8        Reactome Pathways for FTH1 (see all 8)
        Transmembrane transport of small molecules
    Membrane Trafficking
    Scavenging by Class A Receptors
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis


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


    FTH1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FTH1

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

    5/72 Interacting proteins for FTH1 (P027941, 2, 3 ENSP000002735504) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAXP612441, 3, ENSP000003514904EBI-713259,EBI-751711 I2D: score=1 STRING: ENSP00000351490
    UBCP0CG482, 3, ENSP000003448184MINT-3382587 I2D: score=2 STRING: ENSP00000344818
    FTLP027923, ENSP000003665254I2D: score=7 STRING: ENSP00000366525
    EIF1ADQ8N9N83, ENSP000003091754I2D: score=5 STRING: ENSP00000309175
    ELL3Q9HB653, ENSP000003203464I2D: score=4 STRING: ENSP00000320346
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FTH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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

    10/24 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)

    Search CenterWatch for drugs/clinical trials and news about FTH1 / FRIH

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional mRNA sequence: BC105802.1 

    24/196 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 

    24/360 AceView cDNA sequences (see all 360):

    CR611673 CR600685 CR619451 BQ317119 BC013724 BC000857 AA346140 CR608224 
    AI630450 CR624378 BM705091 BC063514 AA658370 BI491397 BC016857 CD368309 
    D28463 CD369558 AA853759 CR592751 AU185848 BQ073234 BQ343607 BC001399 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   

    See FTH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FTH1

    SOURCE GeneReport for Unigene clusters: Hs.524910 Hs.645560
        SABiosciences Expression via Pathway-Focused PCR Arrays including FTH1: 
              Oxidative Stress in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FTH1 gene from 8/16 species (see all 16)    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_010239.11  NP_034369.11 
     99827035 
    chicken
    (Gallus gallus)
    Aves FTH11 ferritin, heavy polypeptide 1 83.81(n)
    93.14(a)
      395970  NM_205086.1  NP_990417.1 
    lizard
    (Anolis carolinensis)
    Reptilia FTH16
    Ferritin
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea ftn-21 Protein FTN-2 61.93(n)
    61.54(a)
      171934  NM_058797.4  NP_491198.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FER41 ferritin 4 56.39(n)
    54.09(a)
      818622  NM_129588.4  NP_181559.1 
    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)
    About This Section
    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


    5/27 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/96 SNPs in FTH1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 134770    OMIM disorders: --

    20/53 diseases for FTH1 (see all 53):    About MalaCards
    superficial siderosis    superficial siderosis of the central nervous system    fth1-related iron overload    iron overload, autosomal dominant
    triple-a syndrome    allergic encephalomyelitis    siderosis    immune-complex glomerulonephritis
    epithelioid sarcoma    spondylolisthesis    radiculopathy    degenerative disc disease
    hemosiderosis    hypersensitivity reaction type ii disease    spinal stenosis    pneumoconiosis
    hemophagocytic lymphohistiocytosis    porphyria cutanea tarda    sickle cell anemia    porphyria

    20/21 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)
    About This Section

    PubMed articles for FTH1 gene, integrated from 9 sources (see all 232):
    (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. (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. (1993)
    3. Genetic loci associated with plasma phospholipid n-3 f atty acids: a meta-analysis of genome-wide association studies from the CHARGE C onsortium. (PubMed id 21829377)1, 4 Lemaitre R.N....Steffen L.M. (2011)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Analysis of ferritin genes in Parkinson disease. (PubMed id 17970701)1, 4 Foglieni B....Cremonesi L. (2007)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2003)
    10. Comparison of the three-dimensional structures of recombinant human H and horse L ferritins at high resolution. (PubMed id 9159481)1, 2 Hempstead P.D.... Harrison P.M. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2495 HGNC: 3976 AceView: FTH1 Ensembl:ENSG00000167996 euGenes: HUgn2495
    ECgene: FTH1 Kegg: 2495 H-InvDB: FTH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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