Ferritin light chain
From Wikipedia, the free encyclopedia
| Ferritin, light polypeptide | |||||||||||||
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 PDB rendering based on 2ffx[1]. |
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| Identifiers | |||||||||||||
| Symbols | FTL; MGC71996; NBIA3 | ||||||||||||
| External IDs | OMIM: 134790 MGI: 95590 HomoloGene: 79330 GeneCards: FTL Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2512 | 14325 | |||||||||||
| Ensembl | ENSG00000087086 | n/a | |||||||||||
| UniProt | P02792 | Q9CPX4 | |||||||||||
| RefSeq (mRNA) | NM_000146 | NM_008049 | |||||||||||
| RefSeq (protein) | NP_000137 | NP_034370.2 | |||||||||||
| Location (UCSC) | Chr 19: 49.47 – 49.47 Mb |
n/a | |||||||||||
| PubMed search | [1] | [2] | |||||||||||
Ferritin light chain is a protein that in humans is encoded by the FTL gene.[2][3][4]
It is abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.[5]
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.[4]
Mutations of the FTL gene cause the rare adult-onset basal ganglia disease also known as neuroferritinopathy (OMIM 606159).
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[edit] Interactions
Ferritin light chain has been shown to interact with FTH1.[6][7]
[edit] See also
[edit] References
- ^ PMID 16790936 (PubMed)
Citation will be completed automatically in a few minutes. Jump the queue or expand by hand - ^ Lebo RV, Kan YW, Cheung MC, Jain SK, Drysdale J (Jan 1986). "Human ferritin light chain gene sequences mapped to several sorted chromosomes". Hum Genet 71 (4): 325–8. doi:10.1007/BF00388458. PMID 3000916.
- ^ Gasparini P, Calvano S, Memeo E, Bisceglia L, Zelante L (Apr 1998). "Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization". Ann Genet 40 (4): 227–8. PMID 9526618.
- ^ a b "FTL ferritin, light polypeptide". National Center for Biotechnology Information. 5 July 2009. http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2512. Retrieved 20 July 2009.
- ^ Zhang Y, Zhang YL, Feng C, et al. (October 2008). "Comparative proteomic analysis of human placenta derived from assisted reproductive technology". Proteomics 8 (20): 4344–56. doi:10.1002/pmic.200800294. PMID 18792929.
- ^ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (Oct. 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- ^ Stelzl, Ulrich; Worm Uwe, Lalowski Maciej, Haenig Christian, Brembeck Felix H, Goehler Heike, Stroedicke Martin, Zenkner Martina, Schoenherr Anke, Koeppen Susanne, Timm Jan, Mintzlaff Sascha, Abraham Claudia, Bock Nicole, Kietzmann Silvia, Goedde Astrid, Toksöz Engin, Droege Anja, Krobitsch Sylvia, Korn Bernhard, Birchmeier Walter, Lehrach Hans, Wanker Erich E (Sep. 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell (United States) 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. ISSN 0092-8674. PMID 16169070.
[edit] External links
[edit] Further reading
- Munro HN, Aziz N, Leibold EA, Murray M, Rogers J, Vass JK, White K (1988). "The ferritin genes: structure, expression, and regulation". Annals of the New York Academy of Sciences 526: 113–23. doi:10.1111/j.1749-6632.1988.tb55497.x. PMID 3291676.
- Cazzola M, Skoda RC (June 2000). "Translational pathophysiology: a novel molecular mechanism of human disease". Blood 95 (11): 3280–8. PMID 10828006.
- Arosio P, Adelman TG, Drysdale JW (June 1978). "On ferritin heterogeneity. Further evidence for heteropolymers". J. Biol. Chem. 253 (12): 4451–8. PMID 659425. http://www.jbc.org/cgi/pmidlookup?view=long&pmid=659425. Retrieved 2009-04-16.
- Gatti RA, Shaked R, Mohandas TK, Salser W (October 1987). "Human ferritin genes: chromosomal assignments and polymorphisms". American Journal of Human Genetics 41 (4): 654–67. PMC 1684326. PMID 2821803. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1684326.
- Chou CC, Gatti RA, Fuller ML, Concannon P, Wong A, Chada S, Davis RC, Salser WA (February 1986). "Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro". Molecular and Cellular Biology 6 (2): 566–73. PMC 367547. PMID 3023856. http://mcb.asm.org/cgi/pmidlookup?view=long&pmid=3023856. Retrieved 2009-04-16.
- Santoro C, Marone M, Ferrone M, Costanzo F, Colombo M, Minganti C, Cortese R, Silengo L (April 1986). "Cloning of the gene coding for human L apoferritin". Nucleic Acids Research 14 (7): 2863–76. doi:10.1093/nar/14.7.2863. PMC 339708. PMID 3754330. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=339708.
- Boyd D, Vecoli C, Belcher DM, Jain SK, Drysdale JW (September 1985). "Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones". Journal of Biological Chemistry 260 (21): 11755–61. PMID 3840162. http://www.jbc.org/cgi/pmidlookup?view=long&pmid=3840162. Retrieved 2009-04-16.
- Worwood M, Brook JD, Cragg SJ, Hellkuhl B, Jones BM, Perera P, Roberts SH, Shaw DJ (1985). "Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter". Human Genetics 69 (4): 371–4. doi:10.1007/BF00291657. PMID 3857215.
- Dörner MH, Salfeld J, Will H, Leibold EA, Vass JK, Munro HN (May 1985). "Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications". Proceedings of the National Academy of Sciences 82 (10): 3139–43. doi:10.1073/pnas.82.10.3139. PMC 397730. PMID 3858810. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=397730.
- Caskey JH, Jones C, Miller YE, Seligman PA (January 1983). "Human ferritin gene is assigned to chromosome 19". Proceedings of the National Academy of Sciences 80 (2): 482–6. doi:10.1073/pnas.80.2.482. PMC 393402. PMID 6572903. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=393402.
- Addison JM, Fitton JE, Lewis WG, May K, Harrison PM (November 1983). "The amino acid sequence of human liver apoferritin". FEBS Letters 164 (1): 139–44. doi:10.1016/0014-5793(83)80037-4. PMID 6653779.
- Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P (December 1995). "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. http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=7492760. Retrieved 2009-04-16.
- Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, Grandchamp B, Bonneau D (December 1995). "Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract". Nature Genetics 11 (4): 444–6. doi:10.1038/ng1295-444. PMID 7493028.
- D'Agostino P, Faniello MC, Quaresima B, Bevilacqua MA, Tiano MT, Ammendola R, Cimino F, Costanzo F (October 1995). "Negative and positive elements in the promoter region of the human apoferritin L gene". Biochemical and Biophysical Research Communications 215 (1): 329–37. doi:10.1006/bbrc.1995.2470. PMID 7575610.
- Rogers JT, Andriotakis JL, Lacroix L, Durmowicz GP, Kasschau KD, Bridges KR (July 1994). "Translational enhancement of H-ferritin mRNA by interleukin-1 beta acts through 5' leader sequences distinct from the iron responsive element". Nucleic Acids Research 22 (13): 2678–86. doi:10.1093/nar/22.13.2678. PMC 308227. PMID 8041631. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=308227.
- Spanner M, Weber K, Lanske B, Ihbe A, Siggelkow H, Schütze H, Atkinson MJ (August 1995). "The iron-binding protein ferritin is expressed in cells of the osteoblastic lineage in vitro and in vivo". Bone 17 (2): 161–5. doi:10.1016/S8756-3282(95)00176-X. PMID 8554925.
- Rogers JT (March 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. http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=8630420. Retrieved 2009-04-16.
- Pang JH, Jiang MJ, Chen YL, Wang FW, Wang DL, Chu SH, Chau LY (May 1996). "Increased ferritin gene expression in atherosclerotic lesions". Journal of Clinical Investigation 97 (10): 2204–12. doi:10.1172/JCI118661. PMC 507299. PMID 8636399. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=507299.
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