EFTUD2 explained

116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.^{[1] [2]}

Disease associations

Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM

1. 610536

),^[3] a multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and/or cardiac and thumb anomalies.

Interactions

EFTUD2 has been shown to interact with WDR57^{[4] [5]} and PRPF8.^[5]

Further reading

• Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S . Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 . DNA Research . 1 . 1 . 27–35 . 1995 . 7584026 . 10.1093/dnares/1.1.27 . free . 10.1.1.494.264 .
• Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S . Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement) . DNA Research . 1 . 1 . 47–56 . 1995 . 7584028 . 10.1093/dnares/1.1.47 . free .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . Jan 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . Oct 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R . The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein . Molecular and Cellular Biology . 18 . 11 . 6756–66 . Nov 1998 . 9774689 . 109259 . 10.1128/mcb.18.11.6756.
• Makarov EM, Makarova OV, Achsel T, Lührmann R . The human homologue of the yeast splicing factor prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions . Journal of Molecular Biology . 298 . 4 . 567–75 . May 2000 . 10788320 . 10.1006/jmbi.2000.3685 .
• Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ . Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis . RNA . 8 . 4 . 426–39 . Apr 2002 . 11991638 . 1370266 . 10.1017/S1355838202021088 .
• Peng R, Dye BT, Pérez I, Barnard DC, Thompson AB, Patton JG . PSF and p54nrb bind a conserved stem in U5 snRNA . RNA . 8 . 10 . 1334–47 . Oct 2002 . 12403470 . 1370341 . 10.1017/S1355838202022070 .
• Ajuh P, Chusainow J, Ryder U, Lamond AI . A novel function for human factor C1 (HCF-1), a host protein required for herpes simplex virus infection, in pre-mRNA splicing . The EMBO Journal . 21 . 23 . 6590–602 . Dec 2002 . 12456665 . 136956 . 10.1093/emboj/cdf652 .
• Li J, Hawkins IC, Harvey CD, Jennings JL, Link AJ, Patton JG . Regulation of alternative splicing by SRrp86 and its interacting proteins . Molecular and Cellular Biology . 23 . 21 . 7437–47 . Nov 2003 . 14559993 . 207616 . 10.1128/MCB.23.21.7437-7447.2003 .
• Will CL, Schneider C, Hossbach M, Urlaub H, Rauhut R, Elbashir S, Tuschl T, Lührmann R . The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome . RNA . 10 . 6 . 929–41 . Jun 2004 . 15146077 . 1370585 . 10.1261/rna.7320604 .
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proceedings of the National Academy of Sciences of the United States of America . 101 . 33 . 12130–5 . Aug 2004 . 15302935 . 514446 . 10.1073/pnas.0404720101 . 2004PNAS..10112130B . free .
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M . Nucleolar proteome dynamics . Nature . 433 . 7021 . 77–83 . Jan 2005 . 15635413 . 10.1038/nature03207 . 2005Natur.433...77A . 4344740 .
• Lennerz V, Fatho M, Gentilini C, Frye RA, Lifke A, Ferel D, Wölfel C, Huber C, Wölfel T . The response of autologous T cells to a human melanoma is dominated by mutated neoantigens . Proceedings of the National Academy of Sciences of the United States of America . 102 . 44 . 16013–8 . Nov 2005 . 16247014 . 1266037 . 10.1073/pnas.0500090102 . 2005PNAS..10216013L . free .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . Nov 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Koch HB, Zhang R, Verdoodt B, Bailey A, Zhang CD, Yates JR, Menssen A, Hermeking H . Large-scale identification of c-MYC-associated proteins using a combined TAP/MudPIT approach . Cell Cycle . 6 . 2 . 205–17 . Jan 2007 . 17314511 . 10.4161/cc.6.2.3742 . free .
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D . Large-scale mapping of human protein-protein interactions by mass spectrometry . Molecular Systems Biology . 3 . 1 . 89 . 2007 . 17353931 . 1847948 . 10.1038/msb4100134 .

Notes and References

1. Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Lührmann R . An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2 . The EMBO Journal . 16 . 13 . 4092–106 . Jul 1997 . 9233818 . 1170032 . 10.1093/emboj/16.13.4092 .
2. Web site: Entrez Gene: EFTUD2 elongation factor Tu GTP binding domain containing 2.
3. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM . Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly . American Journal of Human Genetics . 90 . 2 . 369–77 . Feb 2012 . 22305528 . 3276671 . 10.1016/j.ajhg.2011.12.023 .
4. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D . Large-scale mapping of human protein-protein interactions by mass spectrometry . Molecular Systems Biology . 3 . 1 . 89 . 2007 . 17353931 . 1847948 . 10.1038/msb4100134 .
5. Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R . The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein . Molecular and Cellular Biology . 18 . 11 . 6756–66 . Nov 1998 . 9774689 . 109259 . 10.1128/mcb.18.11.6756.