FTH1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FTH1 |
| Official Name | ferritin heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:3976] |
| Ensembl ID | ENSG00000167996 |
| Bio databases IDs | |
| Aliases | ferritin heavy chain 1, apoferritin, placenta immunoregulatory factor, proliferation-inducing protein 15 |
| Synonyms | APOFERRITIN H CHAIN, Ferritin heavy chain, ferritin heavy chain 1, ferritin heavy polypeptide 1, Ferritin subunit H, FHC, Frih, FTH, FTHL6, HFE5, H-ferritin, HFt, MFH, NBIA9, PIG15, PLIF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FTH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- Ferritin-like domain
- iron ion binding
- enzyme
- protein binding
- ferroxidase
- identical protein binding
- Ferritin-like superfamily of diiron-containing four-helix-bundle proteins
Pathways
Biological processes and signaling networks where the FTH1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- peripheral arterial disease
- epithelial cancer
- chronic periodontal disease
- osteoarthritis
- metastasis
- organismal death
- triple-A syndrome
- breast cancer
- esophageal adenocarcinoma
role in cell
- growth
- expression in
- cell death
- ferroptosis
- production in
- apoptosis
- quantity
- proliferation
- function
- uptake in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- ficolin-1-rich granule lumen
- Extracellular Space
- organelle lumens
- cellular membrane
- Nucleus
- cytosol
- basolateral membrane
- nerve ending
- photoreceptor inner segments
- autolysosomes
- axons
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FTH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular iron ion homeostasis
- immune response
- negative regulation of fibroblast proliferation
- iron ion transport
- negative regulation of cell proliferation
- intracellular sequestering of iron ion
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- ferritin complex
- cytoplasm
- membrane
- cytosol
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- ferric iron binding
- iron ion binding
- ferrous iron binding
- ferroxidase activity