ICK est un gène codé par le symbole CILK1. Communément appelé aussi: Serine/threonine-protein kinase Ciliogenesis associated kinase 1; Intestinal cell kinase; hLaryngeal cancer kinase 2; LCK2; MAK-related kinase; MRK; CILK1; KIAA0936. ICK a une masse de 71.43kDa, une longueur d'acide aminé de 632, et est impliqué dans les maladies: Endocrine-cerebroosteodysplasia; Juvenile myoclonic epilepsy 10.
Nous proposons 9 des anticorps contre ICK, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
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.
Implication dans la maladie
Endocrine-cerebroosteodysplasia: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.
Juvenile myoclonic epilepsy 10: 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.
Similitudes de séquence
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Modification post-traductionnelle
Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.
Localisation cellulaire
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).