FTH1

GeneName

FTH1

Summary

FTH1, also known as ferritin or ferritin heavy chain, is a 21 kDa protein that serves as a major iron storage protein in cells. It is expressed in various tissues, including the liver, spleen, and bone marrow, and plays a critical role in maintaining intracellular iron homeostasis. FTH1 functions by binding and sequestering iron ions, thus preventing oxidative damage caused by free iron. It is localised in multiple cellular compartments, including the cytoplasm, nucleus, and autophagosomes, and is involved in processes such as iron transport and immune response regulation. The protein forms a complex known as the ferritin complex, which is essential for iron storage and release.

Importance

FTH1 is relevant to: - Iron metabolism and homeostasis, as it regulates intracellular iron levels and prevents toxicity from excess iron - Immune response modulation, given its involvement in the regulation of immune cell function - Ferroptosis, where it plays a role in the negative regulation of this form of regulated cell death - Potential therapeutic targets in conditions related to iron dysregulation, such as anaemia and neurodegenerative diseases

Top Products

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Abcam Product Citation Summary

The data indicates that FTH1 is being studied in various contexts, primarily focusing on apoptosis signaling, iron metabolism, and the effects of hypoxia-ischemia. The use of both Western blotting and immunohistochemistry highlights the importance of FTH1 in different cell types and tissues, including human and mouse models. This suggests a significant role for FTH1 in cellular responses to stress and injury.

Abcam Product Citation Table

Function

Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity (PubMed:9003196). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:9003196). Also plays a role in delivery of iron to cells (By similarity). Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes is mediated by the cargo receptor NCOA4 for autophagic degradation and release of iron (PubMed:24695223, PubMed:26436293).

Involvement in disease

Hemochromatosis 5

HFE5

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.

None

The disease is caused by variants 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.

Neurodegeneration with brain iron accumulation 9

NBIA9

An autosomal dominant neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. It is characterized by global developmental delay apparent from infancy, and progressive decline of motor and cognitive skills. Clinical features include delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the ferritin family.

Tissue Specificity

Expressed in the liver.

Cellular localization

• Cytoplasm
• Lysosome
• Cytoplasmic vesicle
• Autophagosome

Alternative names

FTH, FTHL6, OK/SW-cl.84, PIG15, FTH1, Ferritin heavy chain, Ferritin H subunit, Cell proliferation-inducing gene 15 protein

Database links

swissprot:P02794 omim:134770 omim:134790 omim:608847 swissprot:P02792 entrezGene:2495 entrezGene:2512