| Function: |
Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1. |
| Tissue Specificity: |
Isoform 1 and isoform 2 are detected in spermatogonia and Leydig cells. Isoform 3 is detected in round spermatids, elongating spermatids and spermatozoa (at protein level). Widely expressed. Detected in the hematopoietic system, the gastrointestinal system, in melanocytes and in germ cells. |
| Involvement in Disease: |
Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
Gastrointestinal stromal tumor: Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery.
Testicular germ cell tumor: A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.
Leukemia, acute myelogenous: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. |
| Sequence Similarities: |
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. |
| Post-Translational Modification: |
Ubiquitinated by SOCS6. KIT is rapidly ubiquitinated after autophosphorylation induced by KITLG/SCF binding, leading to internalization and degradation. |
| Cellular Location: |
Cell membrane. |
| Database Links: |
Entrez Gene: 3815?HumanOmim: 164920?HumanSwissProt: P10721?HumanUnigene: 479754?Human |
| Synonyms: |
C Kit Antibodyc-Kit Antibodyc-Kit Ligand AntibodyCD117 AntibodyKit AntibodyKit Ligand AntibodyKIT oncogene AntibodyKIT proto oncogene receptor tyrosine kinase AntibodyKIT_HUMAN AntibodyMast cell growth factor receptor AntibodyMast/stem cell growth factor receptor Kit AntibodyMast/stem cell growth factor receptor precursor AntibodyMGF Antibodyp145 c-kit AntibodyPBT AntibodyPiebald trait protein AntibodyProto oncogene c Kit AntibodyProto oncogene tyrosine protein kinase Kit AntibodyProto-oncogene c-Kit AntibodySCF Receptor AntibodySCFR Antibodysoluble KIT variant 1 AntibodySteel Factor Receptor AntibodyStem cell factor receptor Antibodytyrosine protein kinase Kit AntibodyTyrosine-protein kinase Kit Antibodyv kit Hardy Zuckerman 4 feline sarcoma viral oncogene homolog Antibodyv kit Hardy Zuckerman 4 feline sarcoma viral oncogene like protein Antibodyv-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Antibody |
| Information: |
Target information shown above is from the UniProt Consortium. |
