| 释义 |
- See also
- References
- Further reading
{{Infobox_gene}}NIMA (never in mitosis gene a)-related kinase 1, also known as NEK1, is a human gene highly expressed in germ cells and thought to be involved in meiosis. It is also involved in the response to DNA damage from radiation; defects in this gene can be a cause of polycystic kidney disease.[1] NEK1 is thought to be involved in amytrophic lateral sclerosis.[2][3]The gene was discovered by researchers with Project MinE, with the ALS Association providing funding raised through the Ice Bucket Challenge.[4] See also References 1. ^{{cite web|url=https://www.ncbi.nlm.nih.gov/gene/4750|title=NEK1 NIMA related kinase 1 [Homo sapiens (human)] - Gene - NCBI|publisher=|accessdate=28 July 2016}}
2. ^{{Cite web|url=https://www.bbc.com/news/health-36901867|title=Ice Bucket Challenge funds gene discovery in ALS (MND) research - BBC News|last=|first=|date=2016-07-27|website=|publisher=BBC|language=en-GB|access-date=2016-07-27}}
3. ^{{cite journal | vauthors = Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE | display-authors = 6 | title = NEK1 variants confer susceptibility to amyotrophic lateral sclerosis | journal = Nature Genetics | date = July 2016 | pmid = 27455347 | pmc = 5560030 | doi = 10.1038/ng.3626 | volume=48 | issue = 9 | pages=1037–42}}
4. ^{{Cite web |url=http://www.alsa.org/news/media/press-releases/significant-gene-discovery-072516.html |title=ALS Ice Bucket Challenge Donations Lead to Significant Gene Discovery |date=July 25, 2016}}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Letwin K, Mizzen L, Motro B, Ben-David Y, Bernstein A, Pawson T | title = A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells | journal = The EMBO Journal | volume = 11 | issue = 10 | pages = 3521–31 | date = October 1992 | pmid = 1382974 | pmc = 556810 | doi = 10.1002/j.1460-2075.1992.tb05435.x}}
- {{cite journal | vauthors = Upadhya P, Birkenmeier EH, Birkenmeier CS, Barker JE | title = Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 1 | pages = 217–21 | date = January 2000 | pmid = 10618398 | pmc = 26643 | doi = 10.1073/pnas.97.1.217 }}
- {{cite journal | vauthors = Schultz SJ, Nigg EA | title = Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans | journal = Cell Growth & Differentiation | volume = 4 | issue = 10 | pages = 821–30 | date = October 1993 | pmid = 8274451 | doi = }}
- {{cite journal | vauthors = Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jäger D, Jäger E, Knuth A, Chen YT, Old LJ | title = Antigens recognized by autologous antibody in patients with renal-cell carcinoma | journal = International Journal of Cancer | volume = 83 | issue = 4 | pages = 456–64 | date = November 1999 | pmid = 10508479 | doi = 10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5 }}
- {{cite journal | vauthors = Nagase T, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins | journal = DNA Research | volume = 8 | issue = 4 | pages = 179–87 | date = August 2001 | pmid = 11572484 | doi = 10.1093/dnares/8.4.179 }}
- {{cite journal | vauthors = Surpili MJ, Delben TM, Kobarg J | title = Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1 | journal = Biochemistry | volume = 42 | issue = 51 | pages = 15369–76 | date = December 2003 | pmid = 14690447 | doi = 10.1021/bi034575v }}
- {{cite journal | vauthors = Lehner B, Sanderson CM | title = A protein interaction framework for human mRNA degradation | journal = Genome Research | volume = 14 | issue = 7 | pages = 1315–23 | date = July 2004 | pmid = 15231747 | pmc = 442147 | doi = 10.1101/gr.2122004 }}
- {{cite journal | vauthors = Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP | title = Phosphoproteomic analysis of the developing mouse brain | journal = Molecular & Cellular Proteomics | volume = 3 | issue = 11 | pages = 1093–101 | date = November 2004 | pmid = 15345747 | doi = 10.1074/mcp.M400085-MCP200 }}
- {{cite journal | vauthors = Polci R, Peng A, Chen PL, Riley DJ, Chen Y | title = NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response | journal = Cancer Research | volume = 64 | issue = 24 | pages = 8800–3 | date = December 2004 | pmid = 15604234 | doi = 10.1158/0008-5472.CAN-04-2243 }}
{{refend}}{{gene-4-stub}} 1 : Human proteins |