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 nont... See more...

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 Heavy Chain 3 4
  • Ferritin H Subunit 3 4
  • Apoferritin 2 3
  • EC 1.16.3.1 4 52
  • 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 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 Innate Immune System and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include iron ion binding and ferroxidase activity. An important paralog of this gene is FTMT.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for FTH1 Gene

Genomics for FTH1 Gene

GeneHancer (GH) Regulatory Elements for FTH1 Gene

Promoters and enhancers for FTH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J061960 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -1.3 -1264 16.4 EP300 RXRA HNRNPK FOXK2 ZBTB40 ZNF217 TCF12 POLR2G USF1 SP1 FTH1 LOC399900 lnc-RAB3IL1-2 INTS5 NXF1 GANAB CPSF7 TMEM138 CSKMT WDR74
GH11J062024 Enhancer 1.6 FANTOM5 ENCODE dbSUPER 20.4 -57.9 -57904 2.9 EP300 FOXK2 ZNF217 TCF12 NCOR1 FOS ZIC2 KDM6A POLR2A ZBTB11 lnc-BEST1-1 lnc-FTH1-7 FTH1 BEST1 DAGLA FEN1 TTC9C KR153194-027
GH11J061916 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +46.9 46900 10.3 FOXK2 POLR2G USF1 FOS TEAD4 PHB2 ZBTB5 ZIC2 REST KDM6A RAB3IL1 WDR74 CSKMT FADS3 BEST1 INTS5 VPS37C CPSF7 LRRN4CL FADS1
GH11J061693 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.1 +269.7 269736 8.5 ZNF217 CTCF JUND FOS TEAD4 ZFX ZIC2 REST CLOCK CTBP1 MYRF MYRF-AS1 DAGLA SYT7 FTH1 CYB561A3 VWCE SDHAF2 DDB1 CPSF7
GH11J062104 Enhancer 1.1 FANTOM5 ENCODE 14.1 -137.8 -137781 2.5 AFF1 ZNF740 TOE1 MYC HDAC3 NR2F2 NCOR1 KDM5B NFIC GABPA FTH1 INCENP RAB3IL1 FADS3 BEST1 FADS1 MYRF-AS1 MYRF DAGLA piR-38351-078
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FTH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FTH1

Top Transcription factor binding sites by QIAGEN in the FTH1 gene promoter:
  • AP-1
  • GATA-1
  • Gfi-1
  • HSF2
  • Nkx2-5
  • Pax-5
  • RP58
  • STAT1

Genomic Locations for FTH1 Gene

Genomic Locations for FTH1 Gene
chr11:61,959,718-61,967,660
(GRCh38/hg38)
Size:
7,943 bases
Orientation:
Minus strand
chr11:61,727,190-61,735,132
(GRCh37/hg19)
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=Extended N-terminus.; 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

P02794:
  • DPHLCDF
  • LHKLATDK
  • NLELYASY
  • LEKNVNQ
  • EYLFDKH
  • YASYVYLSMSYYFDRDDVAL
  • SQVRQNYH
  • LMKLQNQRG
  • LQDIKKP
  • CALHLEK
  • ETHYLNEQV
  • EEREHAE

Post-translational modifications for FTH1 Gene

  • Ubiquitination at Lys147
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for FTH1

Domains & Families for FTH1 Gene

Gene Families for FTH1 Gene

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

Protein Domains for FTH1 Gene

Blocks:
  • Ferritin
  • Ferritin and Dps
  • Ferritin, central
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FTH1 Gene

GenScript: Design optimal peptide antigens:
  • Ferritin (A9JQE1_HUMAN)
  • Ferritin (E9PKY7_HUMAN)
  • Ferritin (E9PRK8_HUMAN)
  • Cell proliferation-inducing gene 15 protein (FRIH_HUMAN)
  • Ferritin (Q6NS36_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02794

UniProtKB/Swiss-Prot:

FRIH_HUMAN :
  • Belongs to the ferritin family.
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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O; Xref=Rhea:RHEA:11148, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034; EC=1.16.3.1;.
GENATLAS Biochemistry:
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 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 IBA 21873635
GO:0005506 iron ion binding TAS,IBA 21873635
GO:0005515 protein binding IPI 15607035
GO:0008198 ferrous iron binding IBA 21873635
GO:0008199 ferric iron binding IBA 21873635
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:
  • Fth1 Fth1<tm1Cbea>
  • Fth1 Fth1<tm1Kjt>
  • Fth1 Fth1<tm1.1(KOMP)Vlcg>
  • Fth1 Fth1<tm1.1Ruvi>
  • Fth1 Fth1<tm1.2Lck>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FTH1

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

COMPARTMENTS
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
cytosol 5
lysosome 5
extracellular 4
cytoskeleton 3
nucleus 3
plasma membrane 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 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 HDA 21630459
GO:0005737 cytoplasm IBA 21873635
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

SIGNOR curated interactions for FTH1 Gene

Is inactivated by:

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

Drugs & Compounds for FTH1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma Target 1496
Oxygen Approved, Vet_approved Pharma 0
Ferric pyrophosphate citrate Approved, Investigational Pharma Target, binder 0
Ferrous ascorbate Approved Pharma Target 0
Ferrous fumarate Approved Pharma Target 92

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with FTH1: view

Transcripts for FTH1 Gene

mRNA/cDNA for FTH1 Gene

1 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FTH1

Clone Products

  • Addgene plasmids for FTH1

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

Expression for FTH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FTH1 Gene



Protein tissue co-expression partners for FTH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FTH1

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.

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
Systems:
  • cardiovascular
  • digestive
  • immune
Regions:
Abdomen:
  • liver
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia FTH1 30
  • 99.45 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 96 (a)
ManyToMany
-- 31
  • 87 (a)
ManyToMany
-- 31
  • 54 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia FTH1 31 30
  • 93.44 (n)
ManyToMany
cow
(Bos Taurus)
Mammalia FTH1 31 30
  • 91.53 (n)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Fth1 30
  • 91.11 (n)
mouse
(Mus musculus)
Mammalia Fth1 17 31 30
  • 90.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves FTH 31
  • 91 (a)
OneToMany
FTH1 30
  • 82.87 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ftmt 30
  • 74.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64558 30
zebrafish
(Danio rerio)
Actinopterygii fth1a 31
  • 77 (a)
ManyToMany
fth1b 31 30
  • 71.51 (n)
ManyToMany
BX511021.4 31
  • 71 (a)
ManyToMany
zgc:109934 31
  • 71 (a)
ManyToMany
zgc:173594 31
  • 71 (a)
ManyToMany
zgc:198419 31
  • 69 (a)
ManyToMany
zgc:173593 31
  • 69 (a)
ManyToMany
BX511021.2 31
  • 69 (a)
ManyToMany
zgc:194125 31
  • 67 (a)
ManyToMany
zgc:92066 31
  • 54 (a)
ManyToMany
fth1 30
fruit fly
(Drosophila melanogaster)
Insecta CG4349 32
  • 45 (a)
rice
(Oryza sativa)
Liliopsida Os.12096 30
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

ENSEMBL:
Gene Tree for FTH1 (if available)
TreeFam:
Gene Tree for FTH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FTH1: view image

Paralogs for FTH1 Gene

Paralogs for FTH1 Gene

(5) SIMAP similar genes for FTH1 Gene using alignment to 12 proteins:

  • FRIH_HUMAN
  • A9JQE1_HUMAN
  • E9PK45_HUMAN
  • E9PKM5_HUMAN
  • E9PKY7_HUMAN
  • E9PPQ4_HUMAN
  • E9PQR3_HUMAN
  • E9PRK8_HUMAN
  • G3V192_HUMAN
  • G3V1D1_HUMAN
  • Q6NS36_HUMAN
  • Q6NZ44_HUMAN
genes like me logo Genes that share paralogs with FTH1: view

Variants for FTH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FTH1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs111326315 Benign/Likely Benign: Iron Overload; Vitelliform macular dystrophy type 2; Vitreoretinochoroidopathy; not specified; Retinitis Pigmentosa, Recessive 61,962,628(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs112199774 Likely Benign: Iron Overload; Vitelliform macular dystrophy type 2; Vitreoretinochoroidopathy; Retinitis Pigmentosa, Recessive 61,962,297(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs141071579 Likely Benign: Iron Overload; Vitelliform macular dystrophy type 2; Vitreoretinochoroidopathy; Retinitis Pigmentosa, Recessive 61,962,673(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs142482048 Likely Benign: Iron Overload; Vitelliform macular dystrophy type 2; Vitreoretinochoroidopathy; Retinitis Pigmentosa, Recessive 61,964,146(-) C/T NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs147192139 Conflicting Interpretations: Iron Overload; Vitelliform macular dystrophy type 2; Vitreoretinochoroidopathy; Retinitis Pigmentosa, Recessive; not provided 61,962,823(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for FTH1 Gene

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)

Additional Variant Information for FTH1 Gene

Human Gene Mutation Database (HGMD)
FTH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FTH1

SNP Genotyping and Copy Number Assay Products

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

Disorders for FTH1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemochromatosis, type 5
  • hfe5
superficial siderosis of the central nervous system
superficial siderosis
  • superficial siderosis of the central nervous system
vitreoretinochoroidopathy
  • vrcp
siderosis
  • pulmonary siderosis
- 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.

Additional Disease Information for FTH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 54
  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 41 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Analysis of ferritin genes in Parkinson disease. (PMID: 17970701) Foglieni B … Cremonesi L (Clinical chemistry and laboratory medicine 2007) 3 41 54

Products for FTH1 Gene

  • Addgene plasmids for FTH1
  • Boster Bio Antibodies for FTH1
  • Boster Bio ELISA Kits for FTH1

Sources for FTH1 Gene