FER1L3

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Fer-1-like 3, myoferlin (C. elegans)
PDB rendering based on 2dmh.
Available structures: 2dmh
Identifiers
Symbol(s) FER1L3; FLJ36571; FLJ90777; MYOF
External IDs OMIM: 604603 MGI: 1919192 HomoloGene: 40882
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 26509 226101
Ensembl ENSG00000138119 ENSMUSG00000048612
Uniprot Q9NZM1 n/a
Refseq NM_013451 (mRNA)
NP_038479 (protein)		 XM_283556 (mRNA)
XP_283556 (protein)
Location Chr 10: 95.06 - 95.23 Mb Chr 19: 37.96 - 38.11 Mb
Pubmed search [1] [2]

Fer-1-like 3, myoferlin (C. elegans), also known as FER1L3, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans).

[edit] 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. 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. PMID 10574462. 
  • Davis DB, Delmonte AJ, Ly CT, McNally EM (2000). "Myoferlin, a candidate gene and potential modifier of muscular dystrophy.". Hum. Mol. Genet. 9 (2): 217–26. PMID 10607832. 
  • Britton S, Freeman T, Vafiadaki E, et al. (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. 
  • Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus.". Curr. Biol. 12 (1): 1–11. 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. 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. 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. 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. 
  • Bernatchez PN, Acevedo L, Fernandez-Hernando C, et al. (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. 
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