FTH1

Protein identityUniProt · HPA

UniProt accession

P02794

Gene

FTH1

Ensembl

ENSG00000167996

Chromosome

11

Canonical length

183 aa

Protein class

Cancer-related genes, Candidate cardiovascular disease genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

183 residues, UniProt reviewed canonical sequence.

>P02794|FTH1
     1  MTTASTSQVR QNYHQDSEAA INRQINLELY ASYVYLSMSY YFDRDDVALK NFAKYFLHQS
    61  HEEREHAEKL MKLQNQRGGR IFLQDIKKPD CDDWESGLNA MECALHLEKN VNQSLLELHK
   121  LATDKNDPHL CDFIETHYLN EQVKAIKELG DHVTNLRKMG APESGLAEYL FDKHTLGDSD
   181  NES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FTH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

9,247 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FTH1.

Disease | AllUniProt

Conditions FTH1 is implicated in, by any mechanism.

• Hemochromatosis 5 (HFE5) MIM:615517
• Neurodegeneration with brain iron accumulation 9 (NBIA9) MIM:620669

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 73 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodegeneration with brain iron accumulation 9
• Hemochromatosis type 5

Disease | AutoantibodyPubMed

Conditions in which antibodies against FTH1 are reported. Each links to that disease's full target list.

Showing 0 of 2 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for FTH1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.78

gnomAD pLI

0.14

gnomAD missense Z

0.86

DepMap mean gene effect

-0.55

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• immune response
• intracellular iron ion homeostasis
• iron ion transport
• negative regulation of cell population proliferation
• negative regulation of ferroptosis
• negative regulation of fibroblast proliferation

Molecular functions

• ferric iron binding
• ferrous iron binding
• ferroxidase activity
• identical protein binding
• iron ion binding
• iron ion sequestering activity

Cellular components

• autolysosome
• autophagosome
• cytoplasm
• cytosol
• extracellular exosome
• extracellular region
• ferritin complex
• ficolin-1-rich granule lumen
• nucleus
• tertiary granule lumen

Protein domainsUniProt · Pfam · InterPro

• Ferritin
• Ferritin/DPS domain
• Ferritin-like diiron domain
• Ferritin-like superfamily
• Ferritin-like
• Ferritin, conserved site
• Ferritin-like domain

KeywordsUniProt

• Acetylation
• Cytoplasm
• Cytoplasmic vesicle
• Iron
• Iron storage
• Lysosome
• Metal-binding
• Neurodegeneration
• Oxidoreductase
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of FTH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NCOA4
• DAXX
• FTL
• FXR2
• HSPB1
• TSC1