SUBCELLULAR LOCATION: Membrane Single-pass type I membrane protein.ĭISEASE: SwissProt: P10721 # Defects in KIT are a cause of piebaldism. Interacts with the tenth PDZ domain of MPDZ. Binding of the ligands leads to the autophosphorylation of KIT and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K). It has a tyrosine-protein kinase activity. Purity 99% by SDS-PAGE and Coomassie blue staining.įUNCTION: SwissProt: P10721 # This is the receptor for stem cell factor (mast cell growth factor). Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This gene encodes the human homolog of the proto-oncogene c-kit. Recombinant protein expressed in Sf21 cellsġ69 U/mg, where one unit of cKit (V654A) activity is defined as 1nmol phosphate incorporated into 250 μM GGMEDIYFEFMGGKKK per minute at 30 ☌ with a final ATP concentration of 100 μM. The V654A mutation is strongly correlated with imatinib resistance & rapid progession of GISTs. V654A is an acquired resistance mutation found in patients with gastrointestinal stromal tumours (GISTs) undergoing treatment with Imatinib. The V654A mutation is strongly correlated with imatinib resistance and rapid progession of GISTs. V654A is an acquired resistance mutation which has been found in patients with gastrointestinal stromal tumours (GISTs) undergoing treatment with Imatinib. Co-ordinates encompass the cytoplasmic domain (544-976) according in Swiss Prot P10721. N-terminal GST tagged, recombinant human cKit, amino acids 544 - end containing the V654A mutation.
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