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Article

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.

Human molecular genetics - 1 Mar 2012

Zalli Detina, Bayliss Richard, Fry Andrew M

Abstract excerpt

Mutations in the never-in-mitosis A-related kinase, Nek8, are associated with cystic kidney disease in both humans and mice, with Nek8 being the NPHP9 gene in the human juvenile cystic kidney disease, nephronophthisis. Human Nek8/NPHP9 localizes to centrosomes and the proximal region of cilia in dividing and ciliated cells, respectively. However, the regulation of Nek8 kinase activity, as well as its role in...

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Share to Centrosome
Share to Cilia
Share to Kidney Diseases, Cystic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NIMA-Related Kinases

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Source

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Identifiers

PMID: 22106379
DOI: 10.1093/hmg/ddr544
PMCID: PMC3277313

Genes

RCC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.PMID 22106379Read ↗

Defects in ciliary localization of Nek8 is associated with cystogenesis.Semantic proximity Read ↗

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause NephronophthisisSemantic proximity Read ↗

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NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.Semantic proximity Read ↗

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8.Semantic proximity Read ↗

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.Semantic proximity Read ↗

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.Semantic proximity Read ↗

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.Semantic proximity Read ↗

Anks3 alters the sub-cellular localization of the Nek7 kinase.Semantic proximity Read ↗

The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.Semantic proximity Read ↗

Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.Semantic proximity Read ↗

Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.Semantic proximity Read ↗

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