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Aliases for FTH1 Gene

Aliases for FTH1 Gene

  • Ferritin Heavy Chain 1 2 3 5
  • Cell Proliferation-Inducing Gene 15 Protein 3 4
  • Proliferation-Inducing Protein 15 2 3
  • Placenta Immunoregulatory Factor 2 3
  • Ferritin, Heavy Polypeptide 1 2 3
  • Ferritin H Subunit 3 4
  • Apoferritin 2 3
  • EC 4 58
  • FTHL6 3 4
  • FTH 3 4
  • Ferritin Heavy Chain 3
  • PIG15 3
  • HFE5 3
  • PLIF 3
  • FHC 3

External Ids for FTH1 Gene

Previous HGNC Symbols for FTH1 Gene

  • FTHL6

Previous GeneCards Identifiers for FTH1 Gene

  • GC11M064245
  • GC11M063307
  • GC11M061982
  • GC11M061507
  • GC11M061488
  • GC11M061731
  • GC11M058061

Summaries for FTH1 Gene

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 Chain 1) is a Protein Coding gene. Diseases associated with FTH1 include Hemochromatosis, Type 5 and Superficial Siderosis Of The Central Nervous System. Among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Clathrin derived vesicle budding. GO annotations related to this gene include iron ion binding and ferroxidase activity. An important paralog of this gene is FTMT.

UniProtKB/Swiss-Prot for FTH1 Gene

  • 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

Additional gene information for FTH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTH1 Gene

Genomics for FTH1 Gene

Regulatory Elements for FTH1 Gene

Enhancers for FTH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H062024 2.1 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -57.9 -57905 2.9 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 CBX5 FTH1 BEST1 DAGLA FEN1 TTC9C RPS2P37 GC11P062053
GH11H062018 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -51.4 -51441 1.4 GATAD2A CEBPG ZNF644 RCOR2 SMAD4 KDM1A ZBTB33 HNF4A SPI1 FTH1 BEST1 RAB3IL1 DAGLA RPS2P37 GC11P062053
GH11H062104 1.5 FANTOM5 Ensembl ENCODE 14.1 -137.8 -137782 2.5 HDAC1 ATF1 TBL1XR1 ZBTB40 ELK1 EGR1 ATF7 CEBPB NR2F2 MEF2D FTH1 INCENP RAB3IL1 FADS3 BEST1 FADS1 DKFZP434K028 MYRF DAGLA GC11M062088
GH11H061921 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +43.8 43761 4 TBP ATF1 FOXA2 ARID4B KLF17 RARA ETV6 CREM SP5 NCOA1 RAB3IL1 FADS3 BEST1 FADS1 FTH1 DKFZP434K028 MYRF GC11P061939 PIR40157
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FTH1 on UCSC Golden Path with GeneCards custom track

Promoters for FTH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040370 760 3401 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766

Genomic Locations for FTH1 Gene

Genomic Locations for FTH1 Gene
7,943 bases
Minus strand

Genomic View for FTH1 Gene

Genes around FTH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FTH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FTH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTH1 Gene

Proteins for FTH1 Gene

  • Protein details for FTH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ferritin heavy chain
    Protein Accession:
    Secondary Accessions:
    • B3KNR5
    • Q3KRA8
    • Q3SWW1

    Protein attributes for FTH1 Gene

    183 amino acids
    Molecular mass:
    21226 Da
    Quaternary structure:
    • 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=AAI05803.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FTH1 Gene

neXtProt entry for FTH1 Gene

Selected DME Specific Peptides for FTH1 Gene


Post-translational modifications for FTH1 Gene

  • Ubiquitination at isoforms=147
  • Modification sites at PhosphoSitePlus

Domains & Families for FTH1 Gene

Gene Families for FTH1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FTH1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ferritin family.
  • Belongs to the ferritin family.
genes like me logo Genes that share domains with FTH1: view

Function for FTH1 Gene

Molecular function for FTH1 Gene

GENATLAS Biochemistry:
ferritin,heavy polypeptide 1,21.1kDa,liver-like,isolated from brain,iron-storage protein,with a 3utr containing a region of antisense complementarity to the 3 end of VMD2
UniProtKB/Swiss-Prot CatalyticActivity:
4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for FTH1 Gene

Phenotypes From GWAS Catalog for FTH1 Gene

Gene Ontology (GO) - Molecular Function for FTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity IEA --
GO:0005506 iron ion binding TAS 3020541
GO:0005515 protein binding IPI 15607035
GO:0008199 ferric iron binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with FTH1: view
genes like me logo Genes that share phenotypes with FTH1: view

Human Phenotype Ontology for FTH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FTH1 Gene

MGI Knock Outs for FTH1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FTH1

No data available for Transcription Factor Targets and HOMER Transcription for FTH1 Gene

Localization for FTH1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FTH1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
lysosome 5
cytoskeleton 3
mitochondrion 3
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005623 cell IEA --
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0008043 intracellular ferritin complex TAS 6589621
genes like me logo Genes that share ontologies with FTH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FTH1 Gene

Pathways & Interactions for FTH1 Gene

genes like me logo Genes that share pathways with FTH1: view

Gene Ontology (GO) - Biological Process for FTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006826 iron ion transport IEA --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006880 intracellular sequestering of iron ion IDA 9924025
GO:0006955 immune response ISS --
GO:0008285 negative regulation of cell proliferation ISS --
genes like me logo Genes that share ontologies with FTH1: view

No data available for SIGNOR curated interactions for FTH1 Gene

Drugs & Compounds for FTH1 Gene

(16) Drugs for FTH1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma Target 1210
Oxygen Approved, Vet_approved Pharma 0
Ferric pyrophosphate Approved Pharma Enzyme, oxidorectase activity 0
Gallium citrate Ga 67 Approved Pharma Transporter, substrate 0
Iron Dextran Approved, Vet_approved Pharma Target, other 0

(14) Additional Compounds for FTH1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
  • Fe(III)
  • Ferric ion
  • Iron(3+)
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with FTH1: view

Transcripts for FTH1 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FTH1

Alternative Splicing Database (ASD) splice patterns (SP) for FTH1 Gene

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

Relevant External Links for FTH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FTH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FTH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FTH1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for FTH1 Gene

This gene is overexpressed in Liver, secretome (15.9), Frontal cortex (8.5), and Retina (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FTH1 Gene

Protein tissue co-expression partners for FTH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FTH1 Gene:


SOURCE GeneReport for Unigene cluster for FTH1 Gene:


mRNA Expression by UniProt/SwissProt for FTH1 Gene:

Tissue specificity: Expressed in the liver.

Evidence on tissue expression from TISSUES for FTH1 Gene

  • Liver(5)
  • Lung(5)
  • Nervous system(5)
  • Eye(4.9)
  • Intestine(4.9)
  • Kidney(4.9)
  • Pancreas(4.9)
  • Skin(4.9)
  • Stomach(4.8)
  • Bone(4.7)
  • Blood(4.6)
  • Muscle(4.6)
  • Spleen(4.2)
  • Heart(3.8)
  • Bone marrow(3)
  • Thyroid gland(2.8)
  • Adrenal gland(2.5)
  • Gall bladder(2.5)
  • Lymph node(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FTH1 Gene

Germ Layers:
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • liver
  • blood
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with FTH1: view

Orthologs for FTH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FTH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FTH1 33
  • 99.45 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
-- 34
  • 87 (a)
-- 34
  • 54 (a)
-- 34
  • 44 (a)
(Canis familiaris)
Mammalia FTH1 33 34
  • 93.44 (n)
(Bos Taurus)
Mammalia FTH1 33 34
  • 91.53 (n)
(Rattus norvegicus)
Mammalia Fth1 33
  • 91.11 (n)
(Mus musculus)
Mammalia Fth1 33 16 34
  • 90.37 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
(Gallus gallus)
Aves FTH 34
  • 91 (a)
FTH1 33
  • 82.87 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ftmt 33
  • 74.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64558 33
(Danio rerio)
Actinopterygii fth1a 34
  • 77 (a)
fth1b 33 34
  • 71.51 (n)
BX511021.4 34
  • 71 (a)
zgc:109934 34
  • 71 (a)
zgc:173594 34
  • 71 (a)
BX511021.2 34
  • 69 (a)
zgc:173593 34
  • 69 (a)
zgc:198419 34
  • 69 (a)
zgc:194125 34
  • 67 (a)
zgc:92066 34
  • 54 (a)
fth1 33
fruit fly
(Drosophila melanogaster)
Insecta CG4349 35
  • 45 (a)
(Oryza sativa)
Liliopsida Os.12096 33
Species where no ortholog for FTH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FTH1 Gene

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

Paralogs for FTH1 Gene

Paralogs for FTH1 Gene

genes like me logo Genes that share paralogs with FTH1: view

Variants for FTH1 Gene

Sequence variations from dbSNP and Humsavar for FTH1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs387906549 Pathogenic 61,967,589(-) TCAAC(A/T)GTGCT upstream-variant-2KB, utr-variant-5-prime
rs142482048 Likely benign 61,964,146(+) TGCTT(C/T)GCCAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1801327 Likely benign 61,964,338(+) AACCA(C/T)TGGAA nc-transcript-variant, utr-variant-3-prime
rs1801621 Likely benign 61,964,255(+) AATGG(C/T)TAGCT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs186448909 Likely benign 61,965,469(+) AGTAT(C/T)TGGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FTH1 Gene

Variant ID Type Subtype PubMed ID
nsv975936 CNV duplication 23825009

Variation tolerance for FTH1 Gene

Residual Variation Intolerance Score: 40.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FTH1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FTH1 Gene

Disorders for FTH1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for FTH1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FTH1 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:11389486}. 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.

Relevant External Links for FTH1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FTH1: view

No data available for Genatlas for FTH1 Gene

Publications for FTH1 Gene

  1. Sequence of a cDNA encoding the ferritin H-chain from an 11-week-old human fetal brain. (PMID: 7916709) Dhar M … Joshi JG (Gene 1993) 3 4 22 60
  2. Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene. (PMID: 3020541) Hentze MW … Klausner RD (Proceedings of the National Academy of Sciences of the United States of America 1986) 2 3 4 60
  3. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. (PMID: 21829377) Lemaitre RN … Steffen LM (PLoS genetics 2011) 3 45 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Analysis of ferritin genes in Parkinson disease. (PMID: 17970701) Foglieni B … Cremonesi L (Clinical chemistry and laboratory medicine 2007) 3 45 60

Products for FTH1 Gene

  • Addgene plasmids for FTH1

Sources for FTH1 Gene

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