FER1L3

Myoferlin
PDB rendering based on 2dmh.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2DMH​, 2K2O​
Identifiers
Symbols	MYOF ; FER1L3
External IDs	OMIM: 604603 MGI: 1919192 HomoloGene: 40882 GeneCards: MYOF Gene
Gene ontology Molecular function • protein binding • phospholipid binding Cellular component • nuclear envelope • plasma membrane • caveola • integral component of membrane • cytoplasmic vesicle membrane • cytoplasmic vesicle • nuclear membrane • intracellular membrane-bounded organelle • extracellular exosome Biological process • plasma membrane repair • muscle contraction • myoblast fusion • blood circulation • regulation of vascular endothelial growth factor receptor signaling pathway • cellular response to heat Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	26509	226101
Ensembl	ENSG00000138119	ENSMUSG00000048612
UniProt	Q9NZM1	Q69ZN7
RefSeq (mRNA)	NM_013451	NM_001099634
RefSeq (protein)	NP_038479	NP_001093104
Location (UCSC)	Chr 10: 93.31 – 93.48 Mb	Chr 19: 37.9 – 38.04 Mb
PubMed search

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. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. 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.^[4]

References

1. Davis DB, Delmonte AJ, Ly CT, McNally EM (Feb 2000). "Myoferlin, a candidate gene and potential modifier of muscular dystrophy". Hum Mol Genet 9 (2): 217–26. doi:10.1093/hmg/9.2.217. PMID 10607832.
2. Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R (Nov 2000). "The third human FER-1-like protein is highly similar to dysferlin". Genomics 68 (3): 313–21. doi:10.1006/geno.2000.6290. PMID 10995573.
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 (Oct 2007). "Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function". J Biol Chem 282 (42): 30745–53. doi:10.1074/jbc.M704798200. PMID 17702744.
4. "Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)".

Further reading

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