NEK1

Cilia effects upon perturbation of NEK1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Inhibits ciliogenesis

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.58) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.9) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased bone mineral content, decreased body length, decreased prepulse inhibition, decreased total reti thickness, decreased cardiac stroke volume, decreased grip strength, abnormal pelvic girdle bone morphology, abnormal bone structure, abnormal reti outer nuclear layer morphology

Human ciliopathy phenotype:

short-rib thoracic dysplasia 6 with or without polydactyly; short rib-polydactyly syndrome

Ciliopathy associations

• Orofaciodigital Syndrome
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy

References: PMID:25492405, PMID:28123176, PMID:29458881, PMID:22791528, PMID:27530628

Subcellular localization

basal body, centrosome, cilia, nucleus

References: PMID:18387364, PMID:40389989, PMID:41005307, PMID:23255108

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Role in centrosome integrity, affecting both ciliogenesis and centrosome stability, it may suppress cilia by phosphorylating VHL. NEK1 overexpression leads to cilia resorption in cultured cells. Mutations lead to defective cilia (23255108).