호모 사피엔스 종의 단백질 코드 유전자
Symplekin 은 사람에게서 SYMPK [5] [6] 유전자 에 의해 암호화되는 단백질 이다.
기능. 이 유전자는 폴리아데닐화 조절 기능을 하는 핵단백질을 암호화하고 유전자 발현을 촉진한다. 이 단백질은 폴리아데닐화 기계의 구성 요소와 고분자량 복합체를 형성합니다. 폴리아데닐화 복합체에 대한 규제 요인을 모집하기 위한 발판 역할을 할 것으로 생각된다. 또한 폴리아데닐화를 거치지 않는 히스톤 mRNA의 3' 말단 성숙에도 관여한다. 단백질은 또한 일부 세포 [6]
모델 유기체 모델 유기체는 SEMPK 기능의 연구에 사용되어 왔다.International Knockout Mouse Consortium 프로그램의 일환으로 Sympk라고 불리는tm1a(EUCOMM)Wtsi [11] [12] 조건부 녹아웃 마우스 라인이 생성되었습니다.이것은 질병 동물 모델을 생성하여 관심 있는 [13] [14] [15]
수컷과 암컷은 표준화된 표현형 검사를 통해 [9] [16] 돌연변이 생쥐에 대해 25개의 검사가 수행되었고 2개의 유의한 이상이 [9] 임신 기간 동안 동종 돌연변이 배아는 확인되지 않았고, 따라서 젖을 뺄 때까지 살아남은 배아는 없었다. 나머지 테스트는 헤테로 접합 돌연변이 성체 생쥐를 대상으로 수행되었으며, 이러한 [9]
상호 작용 SEMPK는 CSTF2 ,[17] HSF1 [18] Oct4 와[19] 나타났습니다 .
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000125755 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000023118 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Ueki K, Ramaswamy S, Billings SJ, Mohrenweiser HW, Louis DN (May 1997). "Chromosomal localization to 19q13.3, partial genomic structure and 5' cDNA sequence of the human symplekin gene". Somatic Cell and Molecular Genetics . 23 (3): 229–31. doi :10.1007/BF02721375 . PMID 9330635 . S2CID 24956684 . ^ a b "Entrez Gene: SYMPK symplekin" .^ "Salmonella infection data for Sympk" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Sympk" . Wellcome Trust Sanger Institute.^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica . 88 : 925–7. doi :10.1111/j.1755-3768.2010.4142.x . S2CID 85911512 . ^ Wellcome Trust Sanger Institute의 마우스 리소스 포털.^ "International Knockout Mouse Consortium" .^ "Mouse Genome Informatics" .^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function" . Nature . 474 (7351): 337–42. doi :10.1038/nature10163 . PMC 3572410 PMID 21677750 . ^ Dolgin E (Jun 2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons" . Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 PMID 17218247 . S2CID 18872015 . ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism" . Genome Biology . 12 (6): 224. doi :10.1186/gb-2011-12-6-224 . PMC 3218837 PMID 21722353 . ^ Takagaki Y, Manley JL (Mar 2000). "Complex protein interactions within the human polyadenylation machinery identify a novel component" . Molecular and Cellular Biology . 20 (5): 1515–25. doi :10.1128/MCB.20.5.1515-1525.2000 . PMC 85326 PMID 10669729 . ^ Xing H, Mayhew CN, Cullen KE, Park-Sarge OK, Sarge KD (Mar 2004). "HSF1 modulation of Hsp70 mRNA polyadenylation via interaction with symplekin" . The Journal of Biological Chemistry . 279 (11): 10551–5. doi :10.1074/jbc.M311719200 PMID 14707147 . ^ Yu J, Lu W, Ge T, et al., (2019). "Sympk와 10월 4일 간의 상호작용은 생쥐 배아줄기세포 증식을 촉진한다." 줄기세포;37 (6):743-753 https ://doi.org/10.1002/stem.2992
추가 정보 Keon BH, Schäfer S, Kuhn C, Grund C, Franke WW (Aug 1996). "Symplekin, a novel type of tight junction plaque protein" . The Journal of Cell Biology . 134 (4): 1003–18. doi :10.1083/jcb.134.4.1003 . PMC 2120966 PMID 8769423 . Alwazzan M, Hamshere MG, Lennon GG, Brook JD (Jun 1998). "Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat". Mammalian Genome . 9 (6): 485–7. doi :10.1007/s003359900804 . PMID 9585442 . S2CID 319161 . Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (Sep 1998). "Huntingtin interacts with a family of WW domain proteins" . Human Molecular Genetics . 7 (9): 1463–74. doi :10.1093/hmg/7.9.1463 PMID 9700202 . Paffenholz R, Kuhn C, Grund C, Stehr S, Franke WW (Aug 1999). "The arm-repeat protein NPRAP (neurojungin) is a constituent of the plaques of the outer limiting zone in the retina, defining a novel type of adhering junction". Experimental Cell Research . 250 (2): 452–64. doi :10.1006/excr.1999.4534 . PMID 10413599 . Takagaki Y, Manley JL (Mar 2000). "Complex protein interactions within the human polyadenylation machinery identify a novel component" . Molecular and Cellular Biology . 20 (5): 1515–25. doi :10.1128/MCB.20.5.1515-1525.2000 . PMC 85326 PMID 10669729 . Langbein L, Pape UF, Grund C, Kuhn C, Praetzel S, Moll I, Moll R, Franke WW (Aug 2003). "Tight junction-related structures in the absence of a lumen: occludin, claudins and tight junction plaque proteins in densely packed cell formations of stratified epithelia and squamous cell carcinomas". European Journal of Cell Biology . 82 (8): 385–400. doi :10.1078/0171-9335-00330 . PMID 14533737 . Xing H, Mayhew CN, Cullen KE, Park-Sarge OK, Sarge KD (Mar 2004). "HSF1 modulation of Hsp70 mRNA polyadenylation via interaction with symplekin" . The Journal of Biological Chemistry . 279 (11): 10551–5. doi :10.1074/jbc.M311719200 PMID 14707147 . 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 . Barnard DC, Ryan K, Manley JL, Richter JD (Nov 2004). "Symplekin and xGLD-2 are required for CPEB-mediated cytoplasmic polyadenylation" . Cell . 119 (5): 641–51. doi :10.1016/j.cell.2004.10.029 PMID 15550246 . S2CID 8289230 . Kolev NG, Steitz JA (Nov 2005). "Symplekin and multiple other polyadenylation factors participate in 3'-end maturation of histone mRNAs" . Genes & Development . 19 (21): 2583–92. doi :10.1101/gad.1371105 . PMC 1276732 PMID 16230528 . Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Research . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 PMID 16344560 . Kavanagh E, Buchert M, Tsapara A, Choquet A, Balda MS, Hollande F, Matter K (Dec 2006). "Functional interaction between the ZO-1-interacting transcription factor ZONAB/DbpA and the RNA processing factor symplekin" (PDF) . Journal of Cell Science . 119 (Pt 24): 5098–105. doi :10.1242/jcs.03297 PMID 17158914 . S2CID 8702837 .