Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | Kit |
| Gene Name: | KIT |
| Protein Full Name: | Mast/stem cell growth factor receptor |
| Alias: | CD117; C-kit; EC 2.7.10.1; Kinase Kit; Mast/stem cell growth factor receptor precursor; PBT; SCFR; SL; V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene; V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homologue |
| Mass (Da): | 109865 |
| Number AA: | 976 |
| UniProt ID: | P10721 |
| Locus ID: | 3815 |
| COSMIC ID: | KIT |
| Gene location on chromosome: | 4q12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 52825 |
| Percent of cancer specimens with mutations: | 13.89 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | Three main regions, one (AA 816) with many point mutations, a smaller cluster (AA 418-420), and a larger cluster (AA 540-600) with some point mutations, and many complex mutations, insertions and deletions. |
| Commonly recorded point mutations: | D816V (1486); D816? (195); V559D (230); V560D (172); L576P (186); W557R (118) |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | Hardy-Zuckerman feline sarcoma virus - Cat |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | KIT is a receptor tyrosine kinase that plays an essential role in the regulation of cell survival and proliferation, especially hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and melanogenesis. Following activation by KITLG/SCF binding, it can activate the PLCG1, AKT1, RAS, and STAT pathways. Activation of PLCG1 can lead to increased calcium signalling. Mutations leading to constitutive kinase activity have been associated with gastrointestinal stromal tumor, testicular tumors, and acute myelogenous leukemia. The human proto-oncogene c-kit was first identified as the homolog of the feline sarcoma viral oncogene v-kit. |
| Commentary on involvement of protein in cancer: | D816 - D816F in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated. D816H in a testicular tumor; seminoma; somatic mutation; constitutively activated. D816V in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ. D816Y in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated. D816 is located in the kinase catalytic domain in the activation loop between subdomains VII and VIII. |