- NEK8
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NIMA (never in mitosis gene a)- related kinase 8 Identifiers Symbols NEK8; JCK; MGC138445; NEK12A; NPHP9 External IDs OMIM: 609799 MGI: 1890646 HomoloGene: 84442 GeneCards: NEK8 Gene EC number 2.7.11.1 Gene Ontology Molecular function • nucleotide binding
• protein serine/threonine kinase activity
• protein binding
• ATP binding
• metal ion bindingCellular component • cytoplasm Biological process • protein amino acid phosphorylation Sources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 284086 140859 Ensembl ENSG00000160602 ENSMUSG00000017405 UniProt Q86SG6 Q91ZR4 RefSeq (mRNA) NM_178170 NM_080849.3 RefSeq (protein) NP_835464 NP_543125.1 Location (UCSC) Chr 17:
27.06 – 27.07 MbChr 11:
77.98 – 77.99 MbPubMed search [1] [2] 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.[1][2]
Contents
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.[1]
Clinical significance
Mutations in the NEK8 gene associated with nephronophthisis.[3]
References
- ^ a b "Entrez Gene: NIMA (never in mitosis gene a)- related kinase 8". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=284086.
- ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2391043.
- ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0959-437X(09)00086-0.
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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Simms RJ, Eley L, Sayer JA (2009). "Nephronophthisis.". Eur. J. Hum. Genet. 17 (4): 406–16. doi:10.1038/ejhg.2008.238. 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.
Nephrocystin Basal body Cilia Dynein Radial spokes RSPH1 · RSPH3 · RSPH4A · RSPH6A · RSPH9 · RSPH10BOther see also ciliopathy
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)Categories:- Human proteins
- EC 2.7.11
- Genetics stubs
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