NEK8

NIMA-related kinase 8
Identifiers
Symbols NEK8 ; JCK; NEK12A; NPHP9; RHPD2
External IDs OMIM: 609799 MGI: 1890646 HomoloGene: 84442 IUPHAR: 2123 GeneCards: NEK8 Gene
EC number 2.7.11.1
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:
78.17 – 78.18 Mb
PubMed search

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]

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][4]

References

  1. 1 2 "Entrez Gene: NIMA (never in mitosis gene a)- related kinase 8".
  2. 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.
  3. 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.
  4. 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

This article is issued from Wikipedia - version of the Sunday, January 10, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.