CILK1

ciliogenesis associated kinase 1

Ensembl:
ENSG00000112144
UniProt:
Q9UPZ9
OMIM:
612325
Synonyms:
ICK, KIAA0936, LCK2, MGC46090, MRK

Cilia effects upon perturbation of CILK1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Longer cilia

Phenotypes

Mouse phenotype:
increased neutrophil cell number, increased basophil cell number

Ciliopathy associations

  • Cranioectodermal Dysplasia (Sensenbrenner)
  • Juvenile Myoclonic Epilepsy

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation

Function

Also known as ICK. Regulator of ciliary transport through regulation of BBS proteins and IFT-B localisation. Loss of ICK causes accumulation of IFT-A, IFT-B, and BBSome components at the ciliary tips. It is a Kif3a ki se essential for proper ciliogenesis (24797473, 25243405). Involved in the negative control of ciliary length, abnormal ICK function results in the mislocalisation of key mediators for Shh (24853502, 25243405). Anterograde tafficking of CILK is essential for retrograde IFT (32732286)

Model organism evidence

Mus musculus (3 references)

Cilk1, a highly conserved serine/threonine-protein kinase localized within primary cilia, plays a critical role in ciliary transport.

Ciliogenesis-associated kinase 1 (Cilk1) is crucial for maintaining primary cilia required for Hh signal transduction.

PMIDs: 41320695, 41192595, 39120290

C. elegans (2 references)

DYF-5 regulates intraflagellar transport by affecting train turnaround.

We identify several new mutations in genes encoding proteins functioning in intraflagellar transport and cilia assembly, in components of BBSome, MAPK-15, and DYF-5 kinases.

PMIDs: 40072497, 39854273