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词条 UFD1L
释义

  1. Function

  2. Interactions

  3. References

  4. Further reading

{{Infobox_gene}}Ubiquitin fusion degradation protein 1 homolog is a protein that in humans is encoded by the UFD1L gene.[1][2]

Function

The protein encoded by this gene forms a complex with two other proteins, NPL4 and VCP, that is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms.[2]

Interactions

UFD1L has been shown to interact with NPLOC4.[3][4]

References

1. ^{{cite journal | vauthors = Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B | title = UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome | journal = Hum. Mol. Genet. | volume = 6 | issue = 2 | pages = 259–65 | date = August 1997 | pmid = 9063746 | pmc = | doi = 10.1093/hmg/6.2.259 }}
2. ^1 {{cite web | title = Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7353| accessdate = }}
3. ^{{cite journal | vauthors = Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G | title = Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) | journal = Gene | volume = 275 | issue = 1 | pages = 39–46 | date = September 2001 | pmid = 11574150 | doi = 10.1016/S0378-1119(01)00649-7 }}
4. ^{{cite journal | vauthors = Lass A, McConnell E, Fleck K, Palamarchuk A, Wójcik C | title = Analysis of Npl4 deletion mutants in mammalian cells unravels new Ufd1-interacting motifs and suggests a regulatory role of Npl4 in ERAD | journal = Exp. Cell Res. | volume = 314 | issue = 14 | pages = 2715–23 | date = August 2008 | pmid = 18586029 | doi = 10.1016/j.yexcr.2008.06.008 }}
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Further reading

{{Refbegin | 2}}
  • {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | year = 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
  • {{cite journal | vauthors = Novelli G, Mari A, Amati F, Colosimo A, Sangiuolo F, Bengala M, Conti E, Ratti A, Bordoni R, Pizzuti A, Baldini A, Crinelli R, Pandolfi F, Magnani M, Dallapiccola B | title = Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) | journal = Biochim. Biophys. Acta | volume = 1396 | issue = 2 | pages = 158–62 | year = 1998 | pmid = 9540831 | doi = 10.1016/s0167-4781(97)00211-x }}
  • {{cite journal | vauthors = Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D | title = A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects | journal = Science | volume = 283 | issue = 5405 | pages = 1158–61 | year = 1999 | pmid = 10024240 | doi = 10.1126/science.283.5405.1158 }}
  • {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Res. | volume = 10 | issue = 11 | pages = 1788–95 | year = 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
  • {{cite journal | vauthors = Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G | title = Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) | journal = Gene | volume = 275 | issue = 1 | pages = 39–46 | year = 2001 | pmid = 11574150 | doi = 10.1016/S0378-1119(01)00649-7 }}
  • {{cite journal | vauthors = Amati F, Conti E, Botta A, Amicucci P, Dallapiccola B, Novelli G | title = Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L) | journal = Cell Biochem. Funct. | volume = 20 | issue = 2 | pages = 163–70 | year = 2002 | pmid = 11979512 | doi = 10.1002/cbf.966 }}
  • {{cite journal | vauthors = Amati F, Condò I, Conti E, Sangiuolo F, Dallapiccola B, Testi R, Novelli G | title = Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies | journal = Cell Biochem. Funct. | volume = 21 | issue = 3 | pages = 263–7 | year = 2003 | pmid = 12910480 | doi = 10.1002/cbf.1021 }}
  • {{cite journal | vauthors = Ye Y, Shibata Y, Yun C, Ron D, Rapoport TA | title = A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol | journal = Nature | volume = 429 | issue = 6994 | pages = 841–7 | year = 2004 | pmid = 15215856 | doi = 10.1038/nature02656 }}
  • {{cite journal | vauthors = Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biol. | volume = 5 | issue = 10 | pages = R84 | year = 2004 | pmid = 15461802 | pmc = 545604 | doi = 10.1186/gb-2004-5-10-r84 }}
  • {{cite journal | vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A | title = From ORFeome to biology: a functional genomics pipeline | journal = Genome Res. | volume = 14 | issue = 10B | pages = 2136–44 | year = 2004 | pmid = 15489336 | pmc = 528930 | doi = 10.1101/gr.2576704 }}
  • {{cite journal | vauthors = Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS | title = Transcriptome analysis of human gastric cancer | journal = Mamm. Genome | volume = 16 | issue = 12 | pages = 942–54 | year = 2005 | pmid = 16341674 | doi = 10.1007/s00335-005-0075-2 }}
  • {{cite journal | vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S | title = The LIFEdb database in 2006 | journal = Nucleic Acids Res. | volume = 34 | issue = Database issue | pages = D415-8 | year = 2006 | pmid = 16381901 | pmc = 1347501 | doi = 10.1093/nar/gkj139 }}
  • {{cite journal | vauthors = McConnell E, Lass A, Wójcik C | title = Ufd1-Npl4 is a negative regulator of cholera toxin retrotranslocation | journal = Biochem. Biophys. Res. Commun. | volume = 355 | issue = 4 | pages = 1087–90 | year = 2007 | pmid = 17331469 | doi = 10.1016/j.bbrc.2007.02.077 }}
  • {{cite journal | vauthors = Cao J, Wang J, Qi W, Miao HH, Wang J, Ge L, DeBose-Boyd RA, Tang JJ, Li BL, Song BL | title = Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase | journal = Cell Metab. | volume = 6 | issue = 2 | pages = 115–28 | year = 2007 | pmid = 17681147 | doi = 10.1016/j.cmet.2007.07.002 }}
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