CD117 is a cell membrane protein encoded by the c-kit proto-oncogene and is a type III transmembrane protein tyrosine kinase growth factor receptor. CD117 is expressed in mast cells, melanocytes and interstitial cells of Cajal. CD117 is positive in 80-100% of gastric stromal sarcoma (GIST). CD117, as a specific marker for immunohistochemical examination of gastric stromal sarcoma (GIST), can be used to clinically guide the personalized target drug (Gleevec) treatment of GIST patients. CD117 can also be used to identify mast cell tumors in lymphoma and as a marker for some testicular germ cell tumors.
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Function:
Catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.,Disease:Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764].,Disease:Defects in KIT are a cause of piebaldism [MIM:172800]. Piebaldism is an autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.,Disease:Defects in KIT have been associated with testicular tumors [MIM:273300]. It includes germ cell tumor (GCT) or testicular germ cell tumor (TGCT).,Function:This is the receptor for stem cell factor (mast cell growth factor). It has a tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K).,online information:CD117 entry,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family.,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.,similarity:Contains 1 protein kinase domain.,similarity:Contains 5 Ig-like C2-type (immunoglobulin-like) domains.,subunit:Interacts with APS. Interacts with MPDZ (via the tenth PDZ domain). Interacts with PTPRU.,
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Cellular Localization:
Cytoplasmic, Membranous
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Tissue Expression:
Appendix
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Research Areas:
>>MAPK signaling pathway ;
>>Ras signaling pathway ;
>>Rap1 signaling pathway ;
>>Phospholipase D signaling pathway ;
>>PI3K-Akt signaling pathway ;
>>Hematopoietic cell lineage ;
>>Melanogenesis ;
>>Pathways in cancer ;
>>Acute myeloid leukemia ;
>>Breast cancer ;
>>Central carbon metabolism in cancer