NIMA(미토증 유전자 a에서는 절대) 관련 키나아제 1 은 NEK1 로도 알려져 있으며 , 세균 세포 에서 고도로 발현되어 감수분열 에 관여한다고 생각되는 인간 유전자 다.그것은 또한 방사선에 의한 DNA 손상 에 대한 반응에도 관여한다; 이 유전자의 결함은 다낭성 신장병 의 원인이 될 수 있다.[5] NEK1은 근위축성 측경화증 과 관련이 있는 것으로 생각된다.[6] [7]
이 유전자는 ALS 협회 가 아이스 버킷 챌린지 를 통해 모금된 기금을 제공하는 프로젝트 MinE 의 연구원들에 의해 발견되었다.[8]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000137601 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000031644 - 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 .^ "NEK1 NIMA related kinase 1 [Homo sapiens (human)] - Gene - NCBI" . Retrieved 28 July 2016 .^ "Ice Bucket Challenge funds gene discovery in ALS (MND) research - BBC News" . BBC. 2016-07-27. Retrieved 2016-07-27 .^ Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, et al. (July 2016). "NEK1 variants confer susceptibility to amyotrophic lateral sclerosis" . Nature Genetics . 48 (9): 1037–42. doi :10.1038/ng.3626 . PMC 5560030 PMID 27455347 . ^ "ALS Ice Bucket Challenge Donations Lead to Significant Gene Discovery" . July 25, 2016.
추가 읽기 Letwin K, Mizzen L, Motro B, Ben-David Y, Bernstein A, Pawson T (October 1992). "A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells" . The EMBO Journal . 11 (10): 3521–31. doi :10.1002/j.1460-2075.1992.tb05435.x . PMC 556810 PMID 1382974 . Upadhya P, Birkenmeier EH, Birkenmeier CS, Barker JE (January 2000). "Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice" . Proceedings of the National Academy of Sciences of the United States of America . 97 (1): 217–21. Bibcode :2000PNAS...97..217U . doi :10.1073/pnas.97.1.217 PMC 26643 PMID 10618398 . Schultz SJ, Nigg EA (October 1993). "Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans". Cell Growth & Differentiation . 4 (10): 821–30. PMID 8274451 . Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jäger D, Jäger E, Knuth A, Chen YT, Old LJ (November 1999). "Antigens recognized by autologous antibody in patients with renal-cell carcinoma" . International Journal of Cancer . 83 (4): 456–64. doi :10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5 PMID 10508479 . Nagase T, Kikuno R, Ohara O (August 2001). "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" . DNA Research . 8 (4): 179–87. doi :10.1093/dnares/8.4.179 PMID 11572484 . Surpili MJ, Delben TM, Kobarg J (December 2003). "Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1". Biochemistry . 42 (51): 15369–76. doi :10.1021/bi034575v . PMID 14690447 . Lehner B, Sanderson CM (July 2004). "A protein interaction framework for human mRNA degradation" . Genome Research . 14 (7): 1315–23. doi :10.1101/gr.2122004 . PMC 442147 PMID 15231747 . Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (November 2004). "Phosphoproteomic analysis of the developing mouse brain" . Molecular & Cellular Proteomics . 3 (11): 1093–101. doi :10.1074/mcp.M400085-MCP200 PMID 15345747 . Polci R, Peng A, Chen PL, Riley DJ, Chen Y (December 2004). "NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response" . Cancer Research . 64 (24): 8800–3. doi :10.1158/0008-5472.CAN-04-2243 PMID 15604234 .
