Myoferlin Explained

Myoferlin is a protein that in humans is encoded by the MYOF gene.^{[1] [2] [3] [4]}

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. Myoferlin contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Myoferlin also contains a FerA domain. FerA domains have been shown to interact with the membrane, suggesting that FerA domain in myoferlin may contribute to myoferlin's membrane interaction mechanism.^[5] Myoferlin is overexpressed in several types of cancers, especially pancreas and triple-negative breast cancer. Overexpression of myoferlin is associated with proliferation, migration and invasion of cancer cells and silencing myoferlin's gene in triple-negative breast cancer can significantly reduce tumor growth and metastatic progression.^[6] Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length natures have not been determined.^[7]

Further reading

• Nakajima D, Okazaki N, Yamakawa H . Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. . DNA Res. . 9 . 3 . 99–106 . 2003 . 12168954 . 10.1093/dnares/9.3.99 . etal. free .
• Nagase T, Ishikawa K, Kikuno R . Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. . DNA Res. . 6 . 5 . 337–45 . 2000 . 10574462 . 10.1093/dnares/6.5.337 . etal. free .
• Andersen JS, Lyon CE, Fox AH . Directed proteomic analysis of the human nucleolus. . Curr. Biol. . 12 . 1 . 1–11 . 2002 . 11790298 . 10.1016/S0960-9822(01)00650-9 . 14132033 . etal. free . 2002CBio...12....1A .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Deloukas P, Earthrowl ME, Grafham DV . The DNA sequence and comparative analysis of human chromosome 10. . Nature . 429 . 6990 . 375–81 . 2004 . 15164054 . 10.1038/nature02462 . 2004Natur.429..375D . etal. free .
• Beausoleil SA, Jedrychowski M, Schwartz D . Large-scale characterization of HeLa cell nuclear phosphoproteins. . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 10.1073/pnas.0404720101 . 514446 . 2004PNAS..10112130B . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Olsen JV, Blagoev B, Gnad F . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . etal. free .

Notes and References

1. Davis DB, Delmonte AJ, Ly CT, McNally EM . Myoferlin, a candidate gene and potential modifier of muscular dystrophy . Hum Mol Genet . 9 . 2 . 217–26 . Feb 2000 . 10607832 . 10.1093/hmg/9.2.217 .
2. Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R . The third human FER-1-like protein is highly similar to dysferlin . Genomics . 68 . 3 . 313–21 . Nov 2000 . 10995573 . 10.1006/geno.2000.6290 .
3. Bernatchez PN, Acevedo L, Fernandez-Hernando C, Murata T, Chalouni C, Kim J, Erdjument-Bromage H, Shah V, Gratton JP, McNally EM, Tempst P, Sessa WC . Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function . J Biol Chem . 282 . 42 . 30745–53 . Oct 2007 . 17702744 . 10.1074/jbc.M704798200 . free .
4. Web site: Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans).
5. Harsini . Faraz M . Chebrolu . Sukanya . Fuson . Kerry L . White . Mark A . Rice . Anne M . Sutton . Roger B . FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins. . Scientific Reports . 19 July 2018 . 8 . 1 . 10949 . 10.1038/s41598-018-29184-1 . 30026467. 6053371 . 2018NatSR...810949H .
6. Blomme . A . Costanza . B . de Tullio . P . Thiry . M . Van Simaeys . G . Boutry . S . Doumont . G . Di Valentin . E . Hirano . T . Yokobori . T . Gofflot . S . Peulen . O . Bellahcène . A . Sherer . F . Le Goff . C . Cavalier . E . Mouithys-Mickalad . A . Jouret . F . Cusumano . PG . Lifrange . E . Muller . RN . Goldman . S . Delvenne . P . De Pauw . E . Nishiyama . M . Castronovo . V . Turtoi . A . Myoferlin regulates cellular lipid metabolism and promotes metastases in triple-negative breast cancer. . Oncogene . April 2017 . 36 . 15 . 2116–2130 . 10.1038/onc.2016.369 . 27775075. 26225163 . free .
7. Web site: Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans).