NIMA-related_kinase_1 Knowpia

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)
End	169,612,632 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	61,584,380 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; trigeminal ganglion; ; spinal ganglia; ; optic nerve; ; sural nerve; ; internal globus pallidus; ; sperm; ; lactiferous duct; ; caput epididymis; ; external globus pallidus;
	Top expressed in
	sciatic nerve; ; secondary oocyte; ; trigeminal ganglion; ; facial motor nucleus; ; cumulus cell; ; iris; ; ciliary body; ; retinal pigment epithelium; ; substantia nigra; ; ureter;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; protein kinase activity; nucleotide binding; metal ion binding; kinase activity; 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; nucleus;
Biological process	phosphorylation; cell division; protein phosphorylation; cell projection organization; cell cycle; peptidyl-tyrosine phosphorylation; cilium assembly; regulation of mitotic cell cycle; signal transduction; stress-activated protein kinase signaling cascade; activation of protein kinase activity; regulation of apoptotic process; cellular response to DNA damage stimulus;
	Sources:Amigo / QuickGO
Orthologs
	4750
	18004
	ENSG00000137601
	ENSMUSG00000031644
	Q96PY6
	P51954
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137601 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031644 – Ensembl, May 2017
^ "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. Archived from the original on July 28, 2016. Retrieved February 8, 2017.

Further reading edit

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. S2CID 21839750.
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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137601 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-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. Archived from the original on July 28, 2016. Retrieved February 8, 2017.

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Summary

See also edit

References edit

Further reading edit