NEK8

NEK8
Identifiers
AliasesNEK8, JCK, NEK12A, NPHP9, RHPD2, NIMA related kinase 8
External IDsOMIM: 609799; MGI: 1890646; HomoloGene: 84442; GeneCards: NEK8; OMA:NEK8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_178170

NM_080849

RefSeq (protein)

NP_835464

NP_543125

Location (UCSC)Chr 17: 28.73 – 28.74 MbChr 11: 78.06 – 78.07 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000160602Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017405Ensembl, 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. ^ a b "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