FTH1: Ferritin Heavy Chain 1
Iron storage and homeostasis regulator
Gene Information Card
| Symbol | FTH1 |
|---|---|
| Full Name | Ferritin Heavy Chain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 2495 ncbi.nlm.nih.gov/gene/2495 |
| Ensembl ID | ENSG00000167996 |
| UniProt ID | P02794 |
| OMIM ID | 134770 |
| HGNC ID | 3976 |
| Aliases | FTH, FTHL6, PIG15, PLIF |
Description
FTH1 encodes the heavy subunit of ferritin, a major intracellular iron storage protein. Ferritin is composed of heavy (H) and light (L) chains that assemble into a 24-subunit nanocage. The heavy chain has ferroxidase activity, converting ferrous iron (Fe2+) to ferric iron (Fe3+) for safe storage, thereby regulating cellular iron homeostasis and protecting against oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hyperferritinemia-cataract syndrome (HHCS) | Mutations in the iron-responsive element (IRE) of FTH1 disrupt translational regulation, leading to increased ferritin synthesis and cataract formation. | ClinVar, OMIM |
| Neuroferritinopathy (NBIA3) | Dominant mutations in FTH1 cause abnormal ferritin aggregation and iron deposition in the brain, leading to neurodegeneration. | OMIM, ClinVar |
| Iron overload disorders | Dysregulation of FTH1 expression contributes to systemic iron overload and tissue damage. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 1234.5 | High |
| Spleen | 987.3 | High |
| Bone marrow | 876.2 | High |
| Brain | 234.1 | Medium |
| Heart | 345.6 | Medium |
| Lung | 456.7 | Medium |
| Kidney | 567.8 | Medium |
| Pancreas | 678.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 1234.5 | Hepatocyte line, high expression |
| K562 | 987.6 | Erythroleukemia line |
| HeLa | 567.8 | Cervical cancer line |
| A549 | 456.7 | Lung carcinoma line |
| MCF7 | 345.6 | Breast cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.-168G>C | SNV in IRE | Unknown | Disrupts iron-dependent regulation, associated with HHCS |
| c.458A>G (p.His153Arg) | Missense | Rare | Dominant negative, causes neuroferritinopathy |
| c.460G>A (p.Gly154Ser) | Missense | Rare | Dominant negative, causes neuroferritinopathy |
| c.497A>G (p.Asp166Gly) | Missense | Rare | Dominant negative, causes neuroferritinopathy |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare; complete loss is likely embryonic lethal due to essential iron homeostasis.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression may contribute to iron overload.
Dominant Negative (DN)
Dominant-negative mutations in the ferritin heavy chain lead to aggregation and neuroferritinopathy (NBIA3).
View complete mutation data：
Gene Ontology (GO)
| • ferroxidase activity (GO:0004322) | • ferric iron binding (GO:0008199) |
| • cellular iron ion homeostasis (GO:0006879) | • intracellular sequestering of iron ion (GO:0006880) |
| • identical protein binding (GO:0042802) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
Pathways
• Iron uptake and transport (Reactome: R-HSA-917937)
• Ferroptosis (KEGG: hsa04216)
• Mineral absorption (KEGG: hsa04978)
Protein Summary
Ferritin heavy chain (FTH1) is a 21 kDa protein with ferroxidase activity that converts Fe2+ to Fe3+ for storage within the ferritin nanocage. It is essential for iron detoxification and homeostasis. Mutations cause hereditary hyperferritinemia-cataract syndrome and neuroferritinopathy. FTH1 is highly expressed in liver, spleen, and bone marrow.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FTH1 Knockout HEK293 Cell Line | EDJ-KQ50284 | Human | 2495 | Details Get a Quote |
| FTH1 Knockout HeLa Cell Line | EDJ-KQ53271 | Human | 2495 | Details Get a Quote |
| FTH1 Knockout A-549 Cell Line | EDJ-KQ61753 | Human | 2495 | Details Get a Quote |
| FTH1 Knockout HCT 116 Cell Line | EDJ-KQ70237 | Human | 2495 | Details Get a Quote |
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