FTH1

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene.^[5][6] FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5.^[7]

FTH1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FHA, 2CEI, 2CHI, 2CIH, 2CLU, 2CN6, 2CN7, 2FHA, 2IU2, 2Z6M, 3AJO, 3AJP, 3AJQ, 3ERZ, 3ES3, 4DYX, 4DYY, 4DYZ, 4DZ0, 4OYN, 4Y08, 4YKH, 4ZJK, 5CMQ, 5CMR
Identifiers
Aliases	FTH1, FHC, FTH, FTHL6, HFE5, PIG15, PLIF, ferritin, heavy polypeptide 1, ferritin heavy chain 1
External IDs	OMIM: 134770; MGI: 95588; HomoloGene: 74295; GeneCards: FTH1; OMA:FTH1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q12.3 Start 61,959,718 bp[1] End 61,967,634 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 A|19 6.23 cM Start 9,957,962 bp[2] End 9,962,462 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium upper lobe of left lung tibial nerve right lung gastric mucosa Descending thoracic aorta mucosa of transverse colon left coronary artery C1 segment right adrenal cortex Top expressed in globus pallidus deep cerebellar nuclei pontine nuclei fetal liver hematopoietic progenitor cell right kidney lateral geniculate nucleus endothelial cell of lymphatic vessel lateral hypothalamus dentate gyrus of hippocampal formation granule cell gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ferric iron binding metal ion binding ferroxidase activity protein binding oxidoreductase activity iron ion binding ferrous iron binding identical protein binding Cellular component cytosol intracellular ferritin complex extracellular exosome nucleus extracellular region autolysosome tertiary granule lumen ficolin-1-rich granule lumen cytoplasm Biological process intracellular sequestering of iron ion iron ion transport immune response negative regulation of fibroblast proliferation negative regulation of cell population proliferation cellular iron ion homeostasis neutrophil degranulation negative regulation of necrotic cell death Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2495 14319 Ensembl ENSG00000167996 ENSMUSG00000024661 UniProt P02794 P09528 RefSeq (mRNA) NM_002032 NM_010239 RefSeq (protein) NP_002023 NP_034369 Location (UCSC) Chr 11: 61.96 – 61.97 Mb Chr 19: 9.96 – 9.96 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

Interactions

FTH1 has been shown to interact with ferritin light chain.^[8][9]

See also

• Ferritin