CILK1
Function
Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity).
Involvement in disease
Endocrine-cerebroosteodysplasia
ECO
Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.
None
The disease is caused by variants affecting the gene represented in this entry.
Juvenile myoclonic epilepsy 10
EJM10
A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.
Sequence Similarities
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Tissue Specificity
Expressed in heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines.
Cellular localization
- Nucleus
- Cytoplasm
- Cytosol
- Cell projection
- Cilium
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Also found at the ciliary tip (PubMed:24797473). Nuclear localization has been observed with a GFP-tagged construct in transfected HeLa cells (PubMed:12103360, PubMed:19185282).
- Isoform 2
- Cytoplasm
- Predominant cytoplasmic localization has been observed with a N-terminally GFP-tagged construct.
Alternative names
ICK, KIAA0936, CILK1, Serine/threonine-protein kinase ICK, Ciliogenesis associated kinase 1, Intestinal cell kinase, Laryngeal cancer kinase 2, MAK-related kinase, hICK, LCK2, MRK