FER1L3

FER1L3

Fer-1-like 3, myoferlin (C. elegans), also known as FER1L3, is a human gene.cite web | title = Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26509| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26509| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Nakajima D, Okazaki N, Yamakawa H, "et al." |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=
*cite journal | author=Nagase T, Ishikawa K, Kikuno R, "et al." |title=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. |journal=DNA Res. |volume=6 |issue= 5 |pages= 337–45 |year= 2000 |pmid= 10574462 |doi=
*cite journal | author=Davis DB, Delmonte AJ, Ly CT, McNally EM |title=Myoferlin, a candidate gene and potential modifier of muscular dystrophy. |journal=Hum. Mol. Genet. |volume=9 |issue= 2 |pages= 217–26 |year= 2000 |pmid= 10607832 |doi=
*cite journal | author=Britton S, Freeman T, Vafiadaki E, "et al." |title=The third human FER-1-like protein is highly similar to dysferlin. |journal=Genomics |volume=68 |issue= 3 |pages= 313–21 |year= 2000 |pmid= 10995573 |doi= 10.1006/geno.2000.6290
*cite journal | author=Andersen JS, Lyon CE, Fox AH, "et al." |title=Directed proteomic analysis of the human nucleolus. |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1–11 |year= 2002 |pmid= 11790298 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Deloukas P, Earthrowl ME, Grafham DV, "et al." |title=The DNA sequence and comparative analysis of human chromosome 10. |journal=Nature |volume=429 |issue= 6990 |pages= 375–81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462
*cite journal | author=Beausoleil SA, Jedrychowski M, Schwartz D, "et al." |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Bernatchez PN, Acevedo L, Fernandez-Hernando C, "et al." |title=Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. |journal=J. Biol. Chem. |volume=282 |issue= 42 |pages= 30745–53 |year= 2007 |pmid= 17702744 |doi= 10.1074/jbc.M704798200

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  • C2 domain — Pfam box Symbol = C2 Name = C2 domain width =200 caption = The C2 domain of C.absonum α toxin (PDB 1OLP). β strands are shown in yellow. Co ordinated Calcium ions are in cyan Pfam= PF00168 InterPro= IPR000008 SMART= C2 PROSITE = PDOC00380 SCOP =… …   Wikipedia

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