c-kit protein; mast/stem cell growth factor receptor; SCFR; proto-oncogene tyrosine-protein kinase Kit; c-kit; CD117 (KIT)
Jump to navigation
Jump to search
Function
- receptor for stem cell factor (mast cell growth factor) & fibroblast cell-surface protein
- has a tyrosine-protein kinase activity
- binding of the ligands leads to the autophosphorylation of KIT & its association with substrates such as PI-3-kinase (Pi3K)
- interacts with APS
- interacts with the tenth PDZ domain
Structure
- belongs to the protein kinase superfamily, Tyr protein kinase family, CSF-1/PDGF receptor subfamily
- contains 5 Ig-like C2-type domains (immunoglobulin-like)
- contains 1 protein kinase domain
Compartment
- membrane
Expression
- interstitial cells of Cajal in the GI tract (autonomic nerve related) which regulate intestinal motility
- mast cells (constituively expressed)
- hematopoietic stem cells
- melanocytes
- germ cells
- embryonic/fetal brain
- certain cutaneous basal & skin adnexal epithelia
- mammary ductal epithelia
- endothelium [3][5]
- gastrointestinal stromal tumor: ~100% cases
- gastrointestinal autonomic tumors
- mast cell neoplasms
- angiosarcomas (> 50%)
- angiomyolipoma
- clear cell sarcoma
- epithelioid sarcoma
- melanoma
- seminoma/dysgerminoma
- synovial sarcoma: ~100% cases[4], ~10%[5]
- osteosarcoma: ~83% cases[4]
- Ewings sarcoma/PNET: ~71% cases[4]
- Wilms tumor: ~52% cases[4]
- neuroblastoma: ~55% cases[4]
- embryonal rhabdomyosarcoma: ~77% cases[4]
- AML
- CML
- granulocytic sarcoma
- childhood acute myelogenous leukemia
- Hodgkin's lymphoma (some Reed-Sternberg cells)
- small cell lung cancer
- adenoid cystic carcinoma of salivary gland
negative staining with antibody seen in
- alveolar rhabdomyosarcoma[4]
- alveolar soft part sarcoma[4]
- desmoplastic round small cell tumor[4]
- glomus tumors
- leiomyomas (retroperitoneal, colorectal)
- leiomyosarcomas
- myxomas (cardiac)
- schwannomas (colorectal)
- smooth muscle tumors of uncertain malignant potential
- solitary fibrous tumors
Pathology
- defects in KIT associated with
- piebaldism
- gastrointestinal stromal tumor (gain of function)
- some mast cell disorders
- testicular germ cell tumor
- mutation(s) associated with acute myeloid leukemia
Pharmacology
- tyrosine kinase activity of c-kit protein in gastrointestinal stromal tumors (GISTs) is inhibited by imatinib mesylate (Gleevec, STI571)
Comparative biology
- mice with loss of function show
- white coat color (disrupted melanogenesis)
- macrocytic anemia
- mast cell deficiency
- sterility (disrupted gonadogenesis)
More general terms
Additional terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/P10721.html
- ↑ Steele RE. Factor hunting made easier. Trends Biochem Sci. 1991 Apr;16(4):125-6. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1652170
- ↑ 3.0 3.1 Miettinen M, Lasota J. Gastrointestinal stromal tumors-definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch. 2001 Jan;438(1):1-12. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11213830
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 4.9 Smithey BE, Pappo AS, Hill DA. C-kit expression in pediatric solid tumors: a comparative immunohistochemical study. Am J Surg Pathol. 2002 Apr;26(4):486-92. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/11914627
- ↑ 5.0 5.1 5.2 <Internet> http://www.pathologyoutlines.com/cd100247.html 21 June 2005
- ↑ Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/KITID127.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KIT
- ↑ Wikipedia; Note: CD117 entry http://en.wikipedia.org/wiki/CD117
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3815
- OMIM: https://mirror.omim.org/entry/164920
- OMIM: https://mirror.omim.org/entry/172800
- OMIM: https://mirror.omim.org/entry/273300
- OMIM: https://mirror.omim.org/entry/606764
- UniProt: http://www.uniprot.org/uniprot/P10721.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3815