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NEK8
Identifiers
Aliases	NEK8, JCK, NEK12A, NPHP9, RHPD2, NIMA related kinase 8
External IDs	OMIM: 609799; MGI: 1890646; HomoloGene: 84442; GeneCards: NEK8; OMA:NEK8 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q11.2 Start 28,725,897 bp End 28,743,455 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 B5|11 46.74 cM Start 78,056,932 bp End 78,067,501 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell left lobe of thyroid gland granulocyte right lobe of thyroid gland right uterine tube lymph node right adrenal cortex monocyte visceral pleura testicle Top expressed in saccule otic vesicle lumbar spinal ganglion spermatocyte tail of embryo right kidney genital tubercle proximal tubule ventricular zone granulocyte More reference expression data BioGPS n/a
Gene ontology Molecular function kinase activity transferase activity nucleotide binding protein kinase activity protein binding ATP binding metal ion binding protein serine/threonine kinase activity Cellular component cytoplasm ciliary base cell projection cytoskeleton ciliary inversin compartment cilium Biological process animal organ morphogenesis heart development regulation of hippo signaling determination of left/right symmetry phosphorylation protein phosphorylation cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 284086 140859 Ensembl ENSG00000160602 ENSMUSG00000017405 UniProt Q86SG6 Q91ZR4 RefSeq (mRNA) NM_178170 NM_080849 RefSeq (protein) NP_835464 NP_543125 Location (UCSC) Chr 17: 28.73 – 28.74 Mb Chr 11: 78.06 – 78.07 Mb PubMed search
Wikidata
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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.

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.

Clinical significance

Mutations in the NEK8 gene associated with nephronophthisis.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000160602 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000017405 – 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. ^ "Entrez Gene: NIMA (never in mitosis gene a)- related kinase 8".
6. 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.
7. 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.
8. 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. PMC 3277313. PMID 22106379.

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. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
• 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. Bibcode:2002PNAS...9916899M. 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. S2CID 22474278.

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