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Aliases for FTH1 Gene

Aliases for FTH1 Gene

  • Ferritin, Heavy Polypeptide 1 2 3
  • FTHL6 3 4 6
  • 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 64
  • HFE5 3 6
  • FTH 3 4
  • Ferritin Heavy Chain 3
  • PIG15 3
  • PLIF 3
  • FHC 3

External Ids for FTH1 Gene

Previous Symbols for FTH1 Gene

  • FTHL6

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 superficial siderosis of the central nervous system and superficial siderosis. Among its related pathways are Glucose / Energy Metabolism 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 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

Genomic Location for FTH1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FTH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTH1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys147

Other Protein References for FTH1 Gene

Domains for FTH1 Gene

UniProtKB/Swiss-Prot:

FRIH_HUMAN
Domain:
  • Contains 1 ferritin-like diiron domain.:
    • P02794
Family:
  • Belongs to the ferritin family.:
    • P02794
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:0004322 ferroxidase activity IEA --
GO:0005506 iron ion binding TAS 3020541
GO:0005515 protein binding IPI 15607035
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

Animal Models for FTH1 Gene

MGI Knock Outs for FTH1:

miRNA for FTH1 Gene

No data available for Transcription Factor Targeting 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 4
extracellular 4
endosome 3
lysosome 3
plasma membrane 3
vacuole 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
nucleus 2
chloroplast 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion --
GO:0005829 cytosol TAS --
GO:0008043 intracellular ferritin complex TAS 6589621
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FTH1: view

Pathways 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:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006898 receptor-mediated endocytosis TAS --
genes like me logo Genes that share ontologies with FTH1: view

Compounds for FTH1 Gene

(4) HMDB Compounds for FTH1 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8
Iron
  • Armco iron
7439-89-6
Oxygen
  • Oxygen
7782-44-7
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for FTH1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Iron Dextran
  • Dexferrum
9004-66-4 target other

(24) Novoseek inferred chemical compound relationships for FTH1 Gene

Compound -log(P) Hits PubMed IDs
ferrihydrite 73 4
iron 69.8 42
ferrous ammonium sulfate 69.5 4
apotransferrin 54.2 1
deferoxamine 51.3 8
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 (5.7).

Integrated Proteomics: protein expression 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 expressions 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
chimpanzee
(Pan troglodytes)
Mammalia FTH1 36
  • 99.45 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia FTH1 36
  • 91.53 (n)
  • 91.16 (a)
FTH1 37
  • 91 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia FTH1 36
  • 93.44 (n)
  • 96.17 (a)
FTH1 37
  • 96 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Fth1 36
  • 90.37 (n)
  • 93.33 (a)
Fth1 16
Fth1 37
  • 92 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 44 (a)
ManyToMany
-- 37
  • 87 (a)
ManyToMany
-- 37
  • 96 (a)
ManyToMany
-- 37
  • 54 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fth1 36
  • 91.11 (n)
  • 95.56 (a)
chicken
(Gallus gallus)
Aves FTH 37
  • 91 (a)
OneToMany
FTH1 36
  • 82.87 (n)
  • 91.06 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 91 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64558 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ftmt 36
  • 74.76 (n)
  • 82.08 (a)
zebrafish
(Danio rerio)
Actinopterygii BX511021.2 37
  • 69 (a)
ManyToMany
BX511021.4 37
  • 71 (a)
ManyToMany
fth1 36
fth1a 37
  • 77 (a)
ManyToMany
fth1b 36
  • 71.51 (n)
  • 77.33 (a)
fth1b 37
  • 76 (a)
ManyToMany
zgc:109934 37
  • 71 (a)
ManyToMany
zgc:173593 37
  • 69 (a)
ManyToMany
zgc:173594 37
  • 71 (a)
ManyToMany
zgc:194125 37
  • 67 (a)
ManyToMany
zgc:198419 37
  • 69 (a)
ManyToMany
zgc:92066 37
  • 54 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4349 38
  • 45 (a)
rice
(Oryza sativa)
Liliopsida Os.12096 36
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 MAF
rs1049336 -- 61,965,054(-) ACATT(G/T)GGAAA missense, reference
rs1049351 -- 61,965,052(-) ATTTG(A/G)AAAAA missense, reference
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

Relevant External Links for FTH1 Gene

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

Disorders for FTH1 Gene

(1) OMIM Diseases for FTH1 Gene (134770)

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.

(4) Novoseek inferred disease relationships for FTH1 Gene

Disease -log(P) Hits PubMed IDs
serum sickness 50.9 2
iron overload 27.3 2
tumors 4.38 1
breast cancer 0 1

Relevant External Links for FTH1

Genetic Association Database (GAD)
FTH1
Human Genome Epidemiology (HuGE) Navigator
FTH1
genes like me logo Genes that share disorders with FTH1: view

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 J.G. (Gene 1993) 3 4 23
  2. 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
  3. Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro. (PMID: 3023856) Chou C.-C. … Salser W.A. (Mol. Cell. Biol. 1986) 3 4
  4. Solving the structure of human H ferritin by genetically engineering intermolecular crystal contacts. (PMID: 1992356) Lawson D.M. … Harrison P.M. (Nature 1991) 3 4
  5. Structure of gene and pseudogenes of human apoferritin H. (PMID: 3003694) Costanzo F. … Cortese R. (Nucleic Acids Res. 1986) 3 4

Products for FTH1 Gene

Sources for FTH1 Gene

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