NEK1

NIMA related kinase 1

Ensembl:
ENSG00000137601
UniProt:
Q96PY6
OMIM:
604588
Synonyms:
KIAA1901, NY-REN-55

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
Mouse ciliopathy phenotype:
male infertility, short tibia, abnormal cranium 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

Subcellular localization

basal body, centrosome, cilia, nucleus

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). NEK1 binds to the microtubule鈥

Model organism evidence

Mus musculus (1 reference)

Mutations in CFAP410, a basal body protein known to be required for the formation of primary cilia, have been identified as risk modifiers in amyotrophic lateral sclerosis (ALS), a devastating late onset neurodegenerative disorder with poor prognosis.

PMIDs: 40933646