CILK1

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified.

Full Name

ciliogenesis associated kinase 1

Alternative Names

ECO; ICK; MRK; CED6; LCK2; hICK; EJM10

Function

Required for ciliogenesis. Phosphorylates KIF3A. Involved in the control of ciliary length. 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).

Biological Process

Cilium assemblySource:UniProtKB
Intracellular signal transductionSource:UniProtKB
Intraciliary anterograde transportSource:UniProtKB
Intraciliary retrograde transportSource:UniProtKB
Intraciliary transportSource:UniProtKB
Protein phosphorylationSource:UniProtKB
Signal transduction

Cellular Location

Nucleus; Cytoplasm, cytosol; Cell projection, cilium; Cytoplasm, cytoskeleton, cilium basal body

Involvement in disease

ECO: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.
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.
Cranioectodermal dysplasia 6 (CED6): A form of cranioectodermal dysplasia, a disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. CED6 is an autosomal recessive form characterized by dolichocephaly, relative macrocephaly due to external hydrocephalus, dysmorphic facial features, growth retardation, skeletal anomalies, joint laxity, sparse hair, sparse eyebrows and eyelashes, and dental abnormalities. Renal and hepatic abnormalities have also been observed.

PTM

Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.