NEK8

NEK8
Identifiers
AliasesNEK8, JCK, NEK12A, NPHP9, RHPD2, NIMA related kinase 8
External IDsMGI: 1890646 HomoloGene: 84442 GeneCards: NEK8
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q11.2Start28,725,897 bp[1]
End28,743,455 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 11: 78.17 – 78.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6]

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.[5]

Clinical significance

Mutations in the NEK8 gene associated with nephronophthisis.[7][8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000160602 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000017405 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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. 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.


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