EFTUD2: Difference between revisions

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Latest revision as of 00:20, 31 August 2017

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

↑ Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Lührmann R (Jul 1997). "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. doi:10.1093/emboj/16.13.4092. PMC 1170032. PMID 9233818.
↑ "Entrez Gene: EFTUD2 elongation factor Tu GTP binding domain containing 2".
↑ 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 (Feb 2012). "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly". American Journal of Human Genetics. 90 (2): 369–77. doi:10.1016/j.ajhg.2011.12.023. PMC 3276671. PMID 22305528.
↑ 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
↑ ^5.0 ^5.1 Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R (Nov 1998). "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. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.

Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1995). "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. doi:10.1093/dnares/1.1.27. PMID 7584026.
Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1995). "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. doi:10.1093/dnares/1.1.47. PMID 7584028.
Maruyama K, Sugano S (Jan 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.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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.
Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R (Nov 1998). "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. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.
Makarov EM, Makarova OV, Achsel T, Lührmann R (May 2000). "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. doi:10.1006/jmbi.2000.3685. PMID 10788320.
Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ (Apr 2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA. 8 (4): 426–39. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
Peng R, Dye BT, Pérez I, Barnard DC, Thompson AB, Patton JG (Oct 2002). "PSF and p54nrb bind a conserved stem in U5 snRNA". RNA. 8 (10): 1334–47. doi:10.1017/S1355838202022070. PMC 1370341. PMID 12403470.
Ajuh P, Chusainow J, Ryder U, Lamond AI (Dec 2002). "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. doi:10.1093/emboj/cdf652. PMC 136956. PMID 12456665.
Li J, Hawkins IC, Harvey CD, Jennings JL, Link AJ, Patton JG (Nov 2003). "Regulation of alternative splicing by SRrp86 and its interacting proteins". Molecular and Cellular Biology. 23 (21): 7437–47. doi:10.1128/MCB.23.21.7437-7447.2003. PMC 207616. PMID 14559993.
Will CL, Schneider C, Hossbach M, Urlaub H, Rauhut R, Elbashir S, Tuschl T, Lührmann R (Jun 2004). "The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome". RNA. 10 (6): 929–41. doi:10.1261/rna.7320604. PMC 1370585. PMID 15146077.
Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "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. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (Jan 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
Lennerz V, Fatho M, Gentilini C, Frye RA, Lifke A, Ferel D, Wölfel C, Huber C, Wölfel T (Nov 2005). "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. doi:10.1073/pnas.0500090102. PMC 1266037. PMID 16247014.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
Koch HB, Zhang R, Verdoodt B, Bailey A, Zhang CD, Yates JR, Menssen A, Hermeking H (Jan 2007). "Large-scale identification of c-MYC-associated proteins using a combined TAP/MudPIT approach". Cell Cycle. 6 (2): 205–17. doi:10.4161/cc.6.2.3742. PMID 17314511.
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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[pmid9233818-1] Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Lührmann R (Jul 1997). "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. doi:10.1093/emboj/16.13.4092. PMC 1170032. PMID 9233818.

[entrez-2] "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 (Feb 2012). "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly". American Journal of Human Genetics. 90 (2): 369–77. doi:10.1016/j.ajhg.2011.12.023. PMC 3276671. PMID 22305528.

[pmid17353931-4] 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

[pmid9774689-5] 5.0 ^5.1 Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R (Nov 1998). "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. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.

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@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''116 kDa U5 small nuclear ribonucleoprotein component''' is a [[protein]] that in humans is encoded by the ''EFTUD2'' [[gene]].<ref name="pmid9233818">{{cite journal | vauthors = Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Lührmann R | title = An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2 | journal = The EMBO Journal | volume = 16 | issue = 13 | pages = 4092–106 | date = Jul 1997 | pmid = 9233818 | pmc = 1170032 | doi = 10.1093/emboj/16.13.4092 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: EFTUD2 elongation factor Tu GTP binding domain containing 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9343| accessdate = }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Disease associations ==
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Elongation factor Tu GTP binding domain containing 2
- | HGNCid = 30858
- | Symbol = EFTUD2
- | AltSymbols =; DKFZp686E24196; FLJ44695; KIAA0031; Snrp116; Snu114; U5-116KD
- | OMIM = 603892
- | ECnumber =
- | Homologene = 3133
- | MGIid = 1336880
- | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003924 |text = GTPase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}}
- | Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005681 |text = spliceosome}}
- | Process = {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0008380 |text = RNA splicing}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 9343
-    | Hs_Ensembl = ENSG00000108883
-    | Hs_RefseqProtein = NP_004238
-    | Hs_RefseqmRNA = NM_004247
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 17
-    | Hs_GenLoc_start = 40283363
-    | Hs_GenLoc_end = 40332318
-    | Hs_Uniprot = Q15029
-    | Mm_EntrezGene = 20624
-    | Mm_Ensembl = ENSMUSG00000020929
-    | Mm_RefseqmRNA = NM_011431
-    | Mm_RefseqProtein = NP_035561
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 11
-    | Mm_GenLoc_start = 102654562
-    | Mm_GenLoc_end = 102697031
-    | Mm_Uniprot = Q3TMY8
-  }}
-}}
-'''Elongation factor Tu GTP binding domain containing 2''', also known as '''EFTUD2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EFTUD2 elongation factor Tu GTP binding domain containing 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9343| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+Heterozygous loss-of-function mutations in ''EFTUD2'' cause '''Mandibulofacial Dysostosis with Microcephaly '''('''MFDM'''; OMIM [http://omim.org/entry/610536 #610536]),<ref>{{cite journal | vauthors = 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 | title = Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly | journal = American Journal of Human Genetics | volume = 90 | issue = 2 | pages = 369–77 | date = Feb 2012 | pmid = 22305528 | pmc = 3276671 | doi = 10.1016/j.ajhg.2011.12.023 }}</ref> 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.
-{{PBB_Summary
-| section_title =
-| summary_text =
-}}
-==References==
+== Interactions ==
-{{reflist|2}}
-==Further reading==
+EFTUD2 has been shown to [[Protein-protein interaction|interact]] with [[WDR57]]<ref name=pmid17353931>{{cite journal | vauthors = 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 | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}</ref><ref name=pmid9774689>{{cite journal | vauthors = Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R | title = 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 | journal = Molecular and Cellular Biology | volume = 18 | issue = 11 | pages = 6756–66 | date = Nov 1998 | pmid = 9774689 | pmc = 109259 | doi=10.1128/mcb.18.11.6756}}</ref> and [[PRPF8]].<ref name=pmid9774689/>
+== References ==
+{{reflist}}
+== Further reading ==
 {{refbegin | 2}}
-{{PBB_Further_reading
+* {{cite journal | vauthors = Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S | title = 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 | journal = DNA Research | volume = 1 | issue = 1 | pages = 27–35 | year = 1995 | pmid = 7584026 | doi = 10.1093/dnares/1.1.27 }}
-| citations =
+* {{cite journal | vauthors = Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S | title = 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) | journal = DNA Research | volume = 1 | issue = 1 | pages = 47–56 | year = 1995 | pmid = 7584028 | doi = 10.1093/dnares/1.1.47 }}
-*{{cite journal  | author=Nomura N, Miyajima N, Sazuka T, ''et al.'' |title=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. |journal=DNA Res. |volume=1 |issue= 1 |pages= 27-35 |year= 1995 |pmid= 7584026 |doi=  }}
+* {{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 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
-*{{cite journal  | author=Nomura N, Miyajima N, Sazuka T, ''et al.'' |title=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). |journal=DNA Res. |volume=1 |issue= 1 |pages= 47-56 |year= 1995 |pmid= 7584028 |doi=  }}
+* {{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 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
-*{{cite journal  | author=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=  }}
+* {{cite journal | vauthors = Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R | title = 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 | journal = Molecular and Cellular Biology | volume = 18 | issue = 11 | pages = 6756–66 | date = Nov 1998 | pmid = 9774689 | pmc = 109259 | doi =  10.1128/mcb.18.11.6756}}
-*{{cite journal  | author=Fabrizio P, Laggerbauer B, Lauber J, ''et al.'' |title=An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. |journal=EMBO J. |volume=16 |issue= 13 |pages= 4092-106 |year= 1997 |pmid= 9233818 |doi= 10.1093/emboj/16.13.4092 }}
+* {{cite journal | vauthors = Makarov EM, Makarova OV, Achsel T, Lührmann R | title = 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 = Journal of Molecular Biology | volume = 298 | issue = 4 | pages = 567–75 | date = May 2000 | pmid = 10788320 | doi = 10.1006/jmbi.2000.3685 }}
-*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |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=  }}
+* {{cite journal | vauthors = Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ | title = Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis | journal = RNA | volume = 8 | issue = 4 | pages = 426–39 | date = Apr 2002 | pmid = 11991638 | pmc = 1370266 | doi = 10.1017/S1355838202021088 }}
-*{{cite journal  | author=Achsel T, Ahrens K, Brahms H, ''et al.'' |title=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. |journal=Mol. Cell. Biol. |volume=18 |issue= 11 |pages= 6756-66 |year= 1998 |pmid= 9774689 |doi=  }}
+* {{cite journal | vauthors = Peng R, Dye BT, Pérez I, Barnard DC, Thompson AB, Patton JG | title = PSF and p54nrb bind a conserved stem in U5 snRNA | journal = RNA | volume = 8 | issue = 10 | pages = 1334–47 | date = Oct 2002 | pmid = 12403470 | pmc = 1370341 | doi = 10.1017/S1355838202022070 }}
-*{{cite journal  | author=Makarov EM, Makarova OV, Achsel T, Lührmann R |title=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=J. Mol. Biol. |volume=298 |issue= 4 |pages= 567-75 |year= 2000 |pmid= 10788320 |doi= 10.1006/jmbi.2000.3685 }}
+* {{cite journal | vauthors = Ajuh P, Chusainow J, Ryder U, Lamond AI | title = A novel function for human factor C1 (HCF-1), a host protein required for herpes simplex virus infection, in pre-mRNA splicing | journal = The EMBO Journal | volume = 21 | issue = 23 | pages = 6590–602 | date = Dec 2002 | pmid = 12456665 | pmc = 136956 | doi = 10.1093/emboj/cdf652 }}
-*{{cite journal  | author=Jurica MS, Licklider LJ, Gygi SR, ''et al.'' |title=Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. |journal=RNA |volume=8 |issue= 4 |pages= 426-39 |year= 2002 |pmid= 11991638 |doi=  }}
+* {{cite journal | vauthors = Li J, Hawkins IC, Harvey CD, Jennings JL, Link AJ, Patton JG | title = Regulation of alternative splicing by SRrp86 and its interacting proteins | journal = Molecular and Cellular Biology | volume = 23 | issue = 21 | pages = 7437–47 | date = Nov 2003 | pmid = 14559993 | pmc = 207616 | doi = 10.1128/MCB.23.21.7437-7447.2003 }}
-*{{cite journal  | author=Peng R, Dye BT, Pérez I, ''et al.'' |title=PSF and p54nrb bind a conserved stem in U5 snRNA. |journal=RNA |volume=8 |issue= 10 |pages= 1334-47 |year= 2002 |pmid= 12403470 |doi=  }}
+* {{cite journal | vauthors = Will CL, Schneider C, Hossbach M, Urlaub H, Rauhut R, Elbashir S, Tuschl T, Lührmann R | title = The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome | journal = RNA | volume = 10 | issue = 6 | pages = 929–41 | date = Jun 2004 | pmid = 15146077 | pmc = 1370585 | doi = 10.1261/rna.7320604 }}
-*{{cite journal  | author=Ajuh P, Chusainow J, Ryder U, Lamond AI |title=A novel function for human factor C1 (HCF-1), a host protein required for herpes simplex virus infection, in pre-mRNA splicing. |journal=EMBO J. |volume=21 |issue= 23 |pages= 6590-602 |year= 2003 |pmid= 12456665 |doi=  }}
+* {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 33 | pages = 12130–5 | date = Aug 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 }}
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+{{gene-17-stub}}
-{{WikiDoc Sources}}

EFTUD2: Difference between revisions

Latest revision as of 00:20, 31 August 2017

Contents

Disease associations

Interactions

References

Further reading

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