ICK ist ein Gen, das durch das Symbol CILK1 kodiert wird. Im Allgemeinen auch bezeichnet als: Serine/threonine-protein kinase Ciliogenesis associated kinase 1; Intestinal cell kinase; hLaryngeal cancer kinase 2; LCK2; MAK-related kinase; MRK; CILK1; KIAA0936. ICK hat eine Masse von 71.43kDa, eine Aminosäurelänge von 632, und ist an folgenden Krankheiten beteiligt: Endocrine-cerebroosteodysplasia; Juvenile myoclonic epilepsy 10.
Wir bieten 9 antikörper gegen ICK, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Posttranslationale Modifikation
Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.
Zellort
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).
