UFD1L
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Template:Short description An Error has occurred retrieving Wikidata item for infobox 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
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- ^ Page Module:Citation/CS1/styles.css has no content.Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B (August 1997). "UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome". Hum. Mol. Genet. 6 (2): 259–65. doi:10.1093/hmg/6.2.259. PMID 9063746.
- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)".
- ^ Page Module:Citation/CS1/styles.css has no content.Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G (September 2001). "Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)". Gene. 275 (1): 39–46. doi:10.1016/S0378-1119(01)00649-7. PMID 11574150.
- ^ Page Module:Citation/CS1/styles.css has no content.Lass A, McConnell E, Fleck K, Palamarchuk A, Wójcik C (August 2008). "Analysis of Npl4 deletion mutants in mammalian cells unravels new Ufd1-interacting motifs and suggests a regulatory role of Npl4 in ERAD". Exp. Cell Res. 314 (14): 2715–23. doi:10.1016/j.yexcr.2008.06.008. PMID 18586029.
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Page Module:Citation/CS1/styles.css has no content.Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Page Module:Citation/CS1/styles.css has no content.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 (1998). "Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L)". Biochim. Biophys. Acta. 1396 (2): 158–62. doi:10.1016/s0167-4781(97)00211-x. PMID 9540831.
- Page Module:Citation/CS1/styles.css has no content.Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D (1999). "A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects". Science. 283 (5405): 1158–61. Bibcode:1999Sci...283.1158Y. doi:10.1126/science.283.5405.1158. PMID 10024240.
- Page Module:Citation/CS1/styles.css has no content.Hartley JL, Temple GF, Brasch MA (2000). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Page Module:Citation/CS1/styles.css has no content.Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G (2001). "Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)". Gene. 275 (1): 39–46. doi:10.1016/S0378-1119(01)00649-7. PMID 11574150.
- Page Module:Citation/CS1/styles.css has no content.Amati F, Conti E, Botta A, Amicucci P, Dallapiccola B, Novelli G (2002). "Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L)". Cell Biochem. Funct. 20 (2): 163–70. doi:10.1002/cbf.966. PMID 11979512. S2CID 13377004.
- Page Module:Citation/CS1/styles.css has no content.Amati F, Condò I, Conti E, Sangiuolo F, Dallapiccola B, Testi R, Novelli G (2003). "Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies". Cell Biochem. Funct. 21 (3): 263–7. doi:10.1002/cbf.1021. PMID 12910480. S2CID 37752313.
- Page Module:Citation/CS1/styles.css has no content.Ye Y, Shibata Y, Yun C, Ron D, Rapoport TA (2004). "A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol". Nature. 429 (6994): 841–7. Bibcode:2004Natur.429..841Y. doi:10.1038/nature02656. PMID 15215856. S2CID 4317750.
- Page Module:Citation/CS1/styles.css has no content.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 (2004). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
- Page Module:Citation/CS1/styles.css has no content.Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Page Module:Citation/CS1/styles.css has no content.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 (2005). "Transcriptome analysis of human gastric cancer". Mamm. Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
- Page Module:Citation/CS1/styles.css has no content.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 (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Page Module:Citation/CS1/styles.css has no content.McConnell E, Lass A, Wójcik C (2007). "Ufd1-Npl4 is a negative regulator of cholera toxin retrotranslocation". Biochem. Biophys. Res. Commun. 355 (4): 1087–90. doi:10.1016/j.bbrc.2007.02.077. PMID 17331469.
- Page Module:Citation/CS1/styles.css has no content.Cao J, Wang J, Qi W, Miao HH, Wang J, Ge L, DeBose-Boyd RA, Tang JJ, Li BL, Song BL (2007). "Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase". Cell Metab. 6 (2): 115–28. doi:10.1016/j.cmet.2007.07.002. PMID 17681147.
