Biology:EFTUD2
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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 #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]
References
- ↑ "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. doi:10.1093/emboj/16.13.4092. PMID 9233818.
- ↑ "Entrez Gene: EFTUD2 elongation factor Tu GTP binding domain containing 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9343.
- ↑ "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly". American Journal of Human Genetics 90 (2): 369–77. Feb 2012. doi:10.1016/j.ajhg.2011.12.023. PMID 22305528.
- ↑ "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
- ↑ 5.0 5.1 "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. doi:10.1128/mcb.18.11.6756. PMID 9774689.
Further reading
- "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. doi:10.1093/dnares/1.1.27. PMID 7584026.
- "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. doi:10.1093/dnares/1.1.47. PMID 7584028.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "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. doi:10.1128/mcb.18.11.6756. PMID 9774689.
- "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. doi:10.1006/jmbi.2000.3685. PMID 10788320.
- "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA 8 (4): 426–39. Apr 2002. doi:10.1017/S1355838202021088. PMID 11991638.
- "PSF and p54nrb bind a conserved stem in U5 snRNA". RNA 8 (10): 1334–47. Oct 2002. doi:10.1017/S1355838202022070. PMID 12403470.
- "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. doi:10.1093/emboj/cdf652. PMID 12456665.
- "Regulation of alternative splicing by SRrp86 and its interacting proteins". Molecular and Cellular Biology 23 (21): 7437–47. Nov 2003. doi:10.1128/MCB.23.21.7437-7447.2003. PMID 14559993.
- "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. doi:10.1261/rna.7320604. PMID 15146077.
- "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. doi:10.1073/pnas.0404720101. PMID 15302935. Bibcode: 2004PNAS..10112130B.
- "Nucleolar proteome dynamics". Nature 433 (7021): 77–83. Jan 2005. doi:10.1038/nature03207. PMID 15635413. Bibcode: 2005Natur.433...77A.
- "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. doi:10.1073/pnas.0500090102. PMID 16247014. Bibcode: 2005PNAS..10216013L.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. Nov 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "Large-scale identification of c-MYC-associated proteins using a combined TAP/MudPIT approach". Cell Cycle 6 (2): 205–17. Jan 2007. doi:10.4161/cc.6.2.3742. PMID 17314511.
- "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
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