NIMA-related kinase 1

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.[5] NEK1 is thought to be involved in amytrophic lateral sclerosis.[6][7]

NEK1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4APC, 4B9D
Identifiers
Aliases	NEK1, NY-REN-55, SRPS2, SRPS2A, SRTD6, NIMA related kinase 1, ALS24
External IDs	OMIM: 604588 MGI: 97303 HomoloGene: 14376 GeneCards: NEK1
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q33 Start 169,392,857 bp[1] End 169,612,629 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.1|8 30.91 cM Start 60,993,195 bp[2] End 61,131,346 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • protein kinase activity • nucleotide binding • metal ion binding • kinase activity • GO:0001948 protein binding • protein tyrosine kinase activity • ATP binding • protein serine/threonine kinase activity • 14-3-3 protein binding Cellular component • cytoplasm • centrosome • pericentriolar material • microtubule organizing center • cytoskeleton • cell nucleus Biological process • phosphorylation • cell division • protein phosphorylation • cell projection organization • cell cycle • peptidyl-tyrosine phosphorylation • cilium morphogenesis • regulation of mitotic cell cycle • signal transduction by protein phosphorylation • stress-activated protein kinase signaling cascade • activation of protein kinase activity • regulation of apoptotic process • DNA damage response, detection of DNA damage • cellular response to DNA damage stimulus Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4750	18004
Ensembl	ENSG00000137601	ENSMUSG00000031644
UniProt	Q96PY6	P51954
RefSeq (mRNA)	NM_001199397 NM_001199398 NM_001199399 NM_001199400 NM_012224 NM_001374418 NM_001374419 NM_001374420 NM_001374421 NM_001374422 NM_001374423	NM_001293637 NM_001293638 NM_001293639 NM_175089
RefSeq (protein)	NP_001186326 NP_001186327 NP_001186328 NP_001186329 NP_036356 NP_001361347 NP_001361348 NP_001361349 NP_001361350 NP_001361351 NP_001361352	NP_001280566 NP_001280567 NP_001280568 NP_780298
Location (UCSC)	Chr 4: 169.39 – 169.61 Mb	Chr 8: 60.99 – 61.13 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

The gene was discovered by researchers with Project MinE, with the ALS Association providing funding raised through the Ice Bucket Challenge.[8]

See also

• NEK2
• NEK3
• NEK4

References

1. GRCh38: Ensembl release 89: ENSG00000137601 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031644 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "NEK1 NIMA related kinase 1 [Homo sapiens (human)] - Gene - NCBI". Retrieved 28 July 2016.
6. "Ice Bucket Challenge funds gene discovery in ALS (MND) research - BBC News". BBC. 2016-07-27. Retrieved 2016-07-27.
7. 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.
8. "ALS Ice Bucket Challenge Donations Lead to Significant Gene Discovery". July 25, 2016.

Further reading

• 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.