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Aliases for FTH1 Gene

Aliases for FTH1 Gene

  • Ferritin, Heavy Polypeptide 1 2 3 5
  • Cell Proliferation-Inducing Gene 15 Protein 3 4
  • Proliferation-Inducing Protein 15 2 3
  • Placenta Immunoregulatory Factor 2 3
  • Ferritin H Subunit 3 4
  • Apoferritin 2 3
  • EC 1.16.3.1 4 63
  • FTHL6 3 4
  • FTH 3 4
  • 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 Polypeptide 1) is a Protein Coding gene. Diseases associated with FTH1 include hemochromatosis, type 5 and fth1-related iron overload. Among its related pathways are Mineral absorption and Glucose / Energy Metabolism. GO annotations related to this gene include iron ion binding and ferroxidase activity. An important paralog of this gene is FTL.

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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around FTH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FTH1 Gene

Chromosome:
11
Start:
61,959,718 bp from pter
End:
61,967,660 bp from pter
Size:
7,943 bases
Orientation:
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:
    P02794-FRIH_HUMAN
    Recommended name:
    Ferritin heavy chain
    Protein Accession:
    P02794
    Secondary Accessions:
    • B3KNR5
    • Q3KRA8
    • Q3SWW1

    Protein attributes for FTH1 Gene

    Size:
    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.
    SequenceCaution:
    • 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

Proteomics data for FTH1 Gene at MOPED

Post-translational modifications for FTH1 Gene

  • Ubiquitination at Lys 147
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FTH1 (Ferritin-H)

Domains & Families for FTH1 Gene

Suggested Antigen Peptide Sequences for FTH1 Gene

Graphical View of Domain Structure for InterPro Entry

P02794

UniProtKB/Swiss-Prot:

FRIH_HUMAN :
  • Contains 1 ferritin-like diiron domain.
  • Belongs to the ferritin family.
Domain:
  • Contains 1 ferritin-like diiron domain.
Family:
  • Belongs to the ferritin family.
genes like me logo Genes that share domains with FTH1: view

No data available for Gene Families for FTH1 Gene

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

Gene Ontology (GO) - Molecular Function for FTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008199 ferric iron binding 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:

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

Localization for FTH1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FTH1 Gene COMPARTMENTS Subcellular localization image for FTH1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
cytoskeleton 3
mitochondrion 3
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for FTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
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:0006879 cellular iron ion homeostasis IEA,TAS --
GO:0006880 intracellular sequestering of iron ion IDA 9924025
GO:0006955 immune response ISS --
GO:0048147 negative regulation of fibroblast proliferation IDA 9924025
GO:0055085 transmembrane transport TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Dextran Approved Pharma Target, other 0
Copper Pharma 161

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Fe3+
  • Fe(III)
  • Ferric ion
  • Iron(3+)
7439-89-6
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with FTH1: view

Transcripts for FTH1 Gene

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

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

Relevant External Links for FTH1 Gene

GeneLoc Exon Structure for
FTH1
ECgene alternative splicing isoforms for
FTH1

Expression for FTH1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for FTH1 Gene



SOURCE GeneReport for Unigene cluster for FTH1 Gene Hs.524910

mRNA Expression by UniProt/SwissProt for FTH1 Gene

P02794-FRIH_HUMAN
Tissue specificity: Expressed in the liver.
genes like me logo Genes that share expression patterns with FTH1: view

Protein tissue co-expression partners for FTH1 Gene

Primer Products

In Situ Assay Products

Orthologs for FTH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FTH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FTH1 35
  • 91.53 (n)
  • 91.16 (a)
FTH1 36
  • 91 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia FTH1 35
  • 93.44 (n)
  • 96.17 (a)
FTH1 36
  • 96 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Fth1 35
  • 90.37 (n)
  • 93.33 (a)
Fth1 16
Fth1 36
  • 92 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia FTH1 35
  • 99.45 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Fth1 35
  • 91.11 (n)
  • 95.56 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 44 (a)
ManyToMany
-- 36
  • 87 (a)
ManyToMany
-- 36
  • 96 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves FTH1 35
  • 82.87 (n)
  • 91.06 (a)
FTH 36
  • 91 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ftmt 35
  • 74.76 (n)
  • 82.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64558 35
zebrafish
(Danio rerio)
Actinopterygii fth1 35
fth1b 35
  • 71.51 (n)
  • 77.33 (a)
BX511021.2 36
  • 69 (a)
ManyToMany
BX511021.4 36
  • 71 (a)
ManyToMany
fth1a 36
  • 77 (a)
ManyToMany
fth1b 36
  • 76 (a)
ManyToMany
zgc:109934 36
  • 71 (a)
ManyToMany
zgc:173593 36
  • 69 (a)
ManyToMany
zgc:173594 36
  • 71 (a)
ManyToMany
zgc:194125 36
  • 67 (a)
ManyToMany
zgc:198419 36
  • 69 (a)
ManyToMany
zgc:92066 36
  • 54 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4349 37
  • 45 (a)
rice
(Oryza sativa)
Liliopsida Os.12096 35
Species with no ortholog for FTH1:
  • 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

ENSEMBL:
Gene Tree for FTH1 (if available)
TreeFam:
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
rs1049336 -- 61,965,054(-) ACATT(G/T)GGAAA reference, missense
rs1049351 -- 61,965,052(-) ATTTG(A/G)AAAAA reference, missense
rs11554847 -- 61,965,095(-) GATGA(C/T)TGGGA reference, synonymous-codon
rs11554887 -- 61,965,083(-) AGCGG(G/T)CTGAA reference, synonymous-codon
rs12270214 -- 61,965,126(+) GAATA(A/G)GTTAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897617 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
FTH1
Human Gene Mutation Database (HGMD)
FTH1

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

Disorders for FTH1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemochromatosis, type 5
  • iron overload, autosomal dominant
fth1-related iron overload
  • fth1-associated iron overload
superficial siderosis of the central nervous system
superficial siderosis
spondylolisthesis
- elite association - COSMIC cancer census association via MalaCards
Search FTH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

No data available for Genatlas for FTH1 Gene

Publications for FTH1 Gene

  1. Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene. (PMID: 3020541) Hentze M.W. … Klausner R.D. (Proc. Natl. Acad. Sci. U.S.A. 1986) 2 3 4 67
  2. Blocking of the placental immune-modulatory ferritin activates Th1 type cytokines and affects placenta development, fetal growth and the pregnancy outcome. (PMID: 14998975) Nahum R. … Moroz C. (Hum. Reprod. 2004) 3 23
  3. PLIF, a novel human ferritin subunit from placenta with immunosuppressive activity. (PMID: 11821435) Moroz C. … Zahalka M.A. (J. Biol. Chem. 2002) 3 23
  4. Sequence of a cDNA encoding the ferritin H-chain from an 11-week-old human fetal brain. (PMID: 7916709) Dhar M. … Joshi J.G. (Gene 1993) 3 23
  5. Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2. (PMID: 25476789) Galligan J.T. … Howley P.M. (J. Proteome Res. 2015) 3

Products for FTH1 Gene

Sources for FTH1 Gene

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