FTH1 explained

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene.^[1] FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5.^[2]

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.^[3]

Interactions

FTH1 has been shown to interact with ferritin light chain.^{[4] [5]}

See also

• Ferritin

Further reading

• Percy ME, Wong S, Bauer S, Liaghati-Nasseri N, Perry MD, Chauthaiwale VM, Dhar M, Joshi JG . Iron metabolism and human ferritin heavy chain cDNA from adult brain with an elongated untranslated region: new findings and insights . The Analyst . 123 . 1 . 41–50 . January 1998 . 9581019 . 10.1039/a706355e . 1807/16984 . free .
• Arosio P, Adelman TG, Drysdale JW . On ferritin heterogeneity. Further evidence for heteropolymers . The Journal of Biological Chemistry . 253 . 12 . 4451–8 . June 1978 . 10.1016/S0021-9258(17)34741-5 . 659425 . free .
• Lawson DM, Artymiuk PJ, Yewdall SJ, Smith JM, Livingstone JC, Treffry A, Luzzago A, Levi S, Arosio P, Cesareni G . Solving the structure of human H ferritin by genetically engineering intermolecular crystal contacts . Nature . 349 . 6309 . 541–4 . February 1991 . 1992356 . 10.1038/349541a0 . 1991Natur.349..541L . 4366895 .
• Costanzo F, Colombo M, Staempfli S, Santoro C, Marone M, Frank R, Delius H, Cortese R . Structure of gene and pseudogenes of human apoferritin H . Nucleic Acids Research . 14 . 2 . 721–36 . January 1986 . 3003694 . 339460 . 10.1093/nar/14.2.721 .
• Chou CC, Gatti RA, Fuller ML, Concannon P, Wong A, Chada S, Davis RC, Salser WA . Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro . Molecular and Cellular Biology . 6 . 2 . 566–73 . February 1986 . 3023856 . 367547 . 10.1128/mcb.6.2.566.
• Hentze MW, Caughman SW, Rouault TA, Barriocanal JG, Dancis A, Harford JB, Klausner RD . Identification of the iron-responsive element for the translational regulation of human ferritin mRNA . Science . 238 . 4833 . 1570–3 . December 1987 . 3685996 . 10.1126/science.3685996 . 1987Sci...238.1570H .
• Boyd D, Vecoli C, Belcher DM, Jain SK, Drysdale JW . Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones . The Journal of Biological Chemistry . 260 . 21 . 11755–61 . September 1985 . 10.1016/S0021-9258(17)39094-4 . 3840162 . free .
• Worwood M, Brook JD, Cragg SJ, Hellkuhl B, Jones BM, Perera P, Roberts SH, Shaw DJ . Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter . Human Genetics . 69 . 4 . 371–4 . 1985 . 3857215 . 10.1007/BF00291657 . 23574066 .
• Dörner MH, Salfeld J, Will H, Leibold EA, Vass JK, Munro HN . Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications . Proceedings of the National Academy of Sciences of the United States of America . 82 . 10 . 3139–43 . May 1985 . 3858810 . 397730 . 10.1073/pnas.82.10.3139 . 1985PNAS...82.3139D . free .
• Costanzo F, Santoro C, Colantuoni V, Bensi G, Raugei G, Romano V, Cortese R . Cloning and sequencing of a full length cDNA coding for a human apoferritin H chain: evidence for a multigene family . The EMBO Journal . 3 . 1 . 23–7 . January 1984 . 6323167 . 557292 . 10.1002/j.1460-2075.1984.tb01756.x.
• Boyd D, Jain SK, Crampton J, Barrett KJ, Drysdale J . Isolation and characterization of a cDNA clone for human ferritin heavy chain . Proceedings of the National Academy of Sciences of the United States of America . 81 . 15 . 4751–5 . August 1984 . 6589621 . 391568 . 10.1073/pnas.81.15.4751 . 1984PNAS...81.4751B . free .
• Addison JM, Fitton JE, Lewis WG, May K, Harrison PM . The amino acid sequence of human liver apoferritin . FEBS Letters . 164 . 1 . 139–44 . November 1983 . 6653779 . 10.1016/0014-5793(83)80037-4 . 21144293 . free .
• Dhar MS, Joshi JG . Differential processing of the ferritin heavy chain mRNA in human liver and adult human brain . Journal of Neurochemistry . 61 . 6 . 2140–6 . December 1993 . 7504084 . 10.1111/j.1471-4159.1993.tb07452.x . 21229082 .
• Connor JR, Snyder BS, Arosio P, Loeffler DA, LeWitt P . A quantitative analysis of isoferritins in select regions of aged, parkinsonian, and Alzheimer's diseased brains . Journal of Neurochemistry . 65 . 2 . 717–24 . August 1995 . 7616228 . 10.1046/j.1471-4159.1995.65020717.x . 930869 .
• Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N, Yokoyama-Kobayashi M, Aoki T . Construction of a human full-length cDNA bank . Gene . 150 . 2 . 243–50 . December 1994 . 7821789 . 10.1016/0378-1119(94)90433-2 .
• Dhar M, Chauthaiwale V, Joshi JG . Sequence of a cDNA encoding the ferritin H-chain from an 11-week-old human fetal brain . Gene . 126 . 2 . 275–8 . April 1993 . 7916709 . 10.1016/0378-1119(93)90380-L .
• Qi Y, Dawson G . Hypoxia specifically and reversibly induces the synthesis of ferritin in oligodendrocytes and human oligodendrogliomas . Journal of Neurochemistry . 63 . 4 . 1485–90 . October 1994 . 7931301 . 10.1046/j.1471-4159.1994.63041485.x . 22225445 .
• Rogers JT . Ferritin translation by interleukin-6: the role of sequences upstream of the start codons of the heavy and light subunit genes . Blood . 87 . 6 . 2525–37 . March 1996 . 8630420 . 10.1182/blood.V87.6.2525.bloodjournal8762525. free .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . September 1996 . 8889548 . 10.1101/gr.6.9.791 . free .

Notes and References

1. Hentze MW, Keim S, Papadopoulos P, O'Brien S, Modi W, Drysdale J, Leonard WJ, Harford JB, Klausner RD . Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene . Proceedings of the National Academy of Sciences of the United States of America . 83 . 19 . 7226–30 . October 1986 . 3020541 . 386688 . 10.1073/pnas.83.19.7226 . 1986PNAS...83.7226H . free .
2. Web site: Hemochromatosis type 5 - About the Disease - Genetic and Rare Diseases Information Center .
3. Web site: Entrez Gene: FTH1 ferritin, heavy polypeptide 1.
4. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . October 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
5. Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE . A human protein-protein interaction network: a resource for annotating the proteome . Cell . 122 . 6 . 957–68 . September 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free .