NEK8
| NEK8 | |||||||||||||||||
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| Identifiers | |||||||||||||||||
| Aliases | NEK8, JCK, NEK12A, NPHP9, RHPD2, NIMA related kinase 8 | ||||||||||||||||
| External IDs | MGI: 1890646 HomoloGene: 84442 GeneCards: NEK8 | ||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
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| Ensembl | |||||||||||||||||
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| Location (UCSC) | Chr 17: 28.73 – 28.74 Mb | Chr 11: 78.17 – 78.18 Mb | |||||||||||||||
| PubMed search | [1] | [2] | |||||||||||||||
| Wikidata | |||||||||||||||||
| View/Edit Human | View/Edit Mouse |
Serine/threonine-protein kinase Nek8, also known as never in mitosis A-related kinase 8, is an enzyme that in humans is encoded by the NEK8 gene.[3][4]
Function
Nek8 is a member of the serine/threonine-specific protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase.[3]
Clinical significance
Mutations in the NEK8 gene associated with nephronophthisis.[5][6]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "Entrez Gene: NIMA (never in mitosis gene a)- related kinase 8".
- ↑ Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F (March 2008). "NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis". J. Am. Soc. Nephrol. 19 (3): 587–92. doi:10.1681/ASN.2007040490. PMC 2391043
. PMID 18199800. - ↑ Lancaster MA, Gleeson JG (June 2009). "The primary cilium as a cellular signaling center: lessons from disease". Curr. Opin. Genet. Dev. 19 (3): 220–9. doi:10.1016/j.gde.2009.04.008. PMC 2953615. PMID 19477114.
- ↑ Zalli, D.; Bayliss, R.; Fry, A. M. (21 November 2011). "The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis". Human Molecular Genetics. 21 (5): 1155–1171. doi:10.1093/hmg/ddr544.
Further reading
- Bowers AJ, Boylan JF (2004). "Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.". Gene. 328: 135–42. doi:10.1016/j.gene.2003.12.002. PMID 15019993.
- Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells.". Science. 307 (5715): 1621–5. doi:10.1126/science.1105776. PMID 15761153.
- Valkova N, Yunis R, Mak SK, et al. (2005). "Nek8 mutation causes overexpression of galectin-1, sorcin, and vimentin and accumulation of the major urinary protein in renal cysts of jck mice.". Mol. Cell Proteomics. 4 (7): 1009–18. doi:10.1074/mcp.M500091-MCP200. PMID 15872312.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Holland PM, Milne A, Garka K, et al. (2002). "Purification, cloning, and characterization of Nek8, a novel NIMA-related kinase, and its candidate substrate Bicd2.". J. Biol. Chem. 277 (18): 16229–40. doi:10.1074/jbc.M108662200. PMID 11864968.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Simms RJ, Eley L, Sayer JA (2009). "Nephronophthisis.". Eur. J. Hum. Genet. 17 (4): 406–16. doi:10.1038/ejhg.2008.238. PMC 2986221. PMID 19066617.
- Wu C, Ma MH, Brown KR, et al. (2007). "Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.". Proteomics. 7 (11): 1775–85. doi:10.1002/pmic.200601006. PMID 17474147.