| Ferritin, light polypeptide
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| PDB rendering based on 2ffx.
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| Available structures: 2ffx, 2fg4, 2fg8
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| Identifiers
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| Symbol(s)
| FTL; MGC71996
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| External IDs
| OMIM: 134790 MGI: 95590 Homologene: 79330
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| Gene Ontology
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| Molecular Function:
| • binding
• ferric iron binding
• oxidoreductase activity
• identical protein binding
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| Cellular Component:
| • ferritin complex
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| Biological Process:
| • iron ion transport
• cellular iron ion homeostasis
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| RNA expression pattern
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Additional recommended knowledge
More reference expression data
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| Orthologs
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| Human
| Mouse
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| Entrez
| 2512
| 14337
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| Ensembl
| ENSG00000087086
| na
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| Uniprot
| P02792
| na
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| Refseq
| NM_000146 (mRNA)
NP_000137 (protein)
| NM_008049 (mRNA)
NP_032075 (protein)
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| Location
| Chr 19: 54.16 - 54.16 Mb
| na
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| Pubmed search
| [1]
| [2]
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Ferritin, light polypeptide, also known as FTL, is a human gene.[1]
This gene encodes the light subunit of the ferritin protein. Ferritin is 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 this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes.[1]
References
- ^ a b Entrez Gene: FTL ferritin, light polypeptide.
Further reading
- Munro HN, Aziz N, Leibold EA, et al. (1988). "The ferritin genes: structure, expression, and regulation.". Ann. N. Y. Acad. Sci. 526: 113-23. PMID 3291676.
- Cazzola M, Skoda RC (2000). "Translational pathophysiology: a novel molecular mechanism of human disease.". Blood 95 (11): 3280-8. PMID 10828006.
- Arosio P, Adelman TG, Drysdale JW (1978). "On ferritin heterogeneity. Further evidence for heteropolymers.". J. Biol. Chem. 253 (12): 4451-8. PMID 659425.
- Gatti RA, Shaked R, Mohandas TK, Salser W (1987). "Human ferritin genes: chromosomal assignments and polymorphisms.". Am. J. Hum. Genet. 41 (4): 654-67. PMID 2821803.
- Lebo RV, Kan YW, Cheung MC, et al. (1986). "Human ferritin light chain gene sequences mapped to several sorted chromosomes.". Hum. Genet. 71 (4): 325-8. PMID 3000916.
- Chou CC, Gatti RA, Fuller ML, et al. (1987). "Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro.". Mol. Cell. Biol. 6 (2): 566-73. PMID 3023856.
- Santoro C, Marone M, Ferrone M, et al. (1986). "Cloning of the gene coding for human L apoferritin.". Nucleic Acids Res. 14 (7): 2863-76. PMID 3754330.
- Boyd D, Vecoli C, Belcher DM, et al. (1985). "Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones.". J. Biol. Chem. 260 (21): 11755-61. PMID 3840162.
- Worwood M, Brook JD, Cragg SJ, et al. (1985). "Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter.". Hum. Genet. 69 (4): 371-4. PMID 3857215.
- Dörner MH, Salfeld J, Will H, et al. (1985). "Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications.". Proc. Natl. Acad. Sci. U.S.A. 82 (10): 3139-43. PMID 3858810.
- Caskey JH, Jones C, Miller YE, Seligman PA (1983). "Human ferritin gene is assigned to chromosome 19.". Proc. Natl. Acad. Sci. U.S.A. 80 (2): 482-6. PMID 6572903.
- Addison JM, Fitton JE, Lewis WG, et al. (1984). "The amino acid sequence of human liver apoferritin.". FEBS Lett. 164 (1): 139-44. PMID 6653779.
- Girelli D, Corrocher R, Bisceglia L, et al. (1996). "Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")". Blood 86 (11): 4050-3. PMID 7492760.
- Beaumont C, Leneuve P, Devaux I, et al. (1996). "Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.". Nat. Genet. 11 (4): 444-6. doi:10.1038/ng1295-444. PMID 7493028.
- D'Agostino P, Faniello MC, Quaresima B, et al. (1995). "Negative and positive elements in the promoter region of the human apoferritin L gene.". Biochem. Biophys. Res. Commun. 215 (1): 329-37. PMID 7575610.
- Rogers JT, Andriotakis JL, Lacroix L, et al. (1994). "Translational enhancement of H-ferritin mRNA by interleukin-1 beta acts through 5' leader sequences distinct from the iron responsive element.". Nucleic Acids Res. 22 (13): 2678-86. PMID 8041631.
- Spanner M, Weber K, Lanske B, et al. (1996). "The iron-binding protein ferritin is expressed in cells of the osteoblastic lineage in vitro and in vivo.". Bone 17 (2): 161-5. PMID 8554925.
- Rogers JT (1996). "Ferritin translation by interleukin-1and interleukin-6: the role of sequences upstream of the start codons of the heavy and light subunit genes.". Blood 87 (6): 2525-37. PMID 8630420.
- Pang JH, Jiang MJ, Chen YL, et al. (1996). "Increased ferritin gene expression in atherosclerotic lesions.". J. Clin. Invest. 97 (10): 2204-12. PMID 8636399.
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