Literature summary for 2.7.10.1 extracted from

Matsumura, I.; Mizuki, M.; Kanakura, Y.
Roles for deregulated receptor tyrosine kinases and their downstream signaling molecules in hematologic malignancies (2008), Cancer Sci., 99, 479-485.

Activating Compound

Activating Compound	Comment	Organism	Structure
additional information	constitutive activation of RTKs is provoked by several mechanisms including chromosomal translocations and various mutations involving their regulatory regions. Missense, insertion or deletion mutations in the regulatory regions, such as juxtamembrane domain, activation loop, and extracellular domain, also cause constitutive activation of RTKs mainly by preventing the auto-inhibitory regulation	Homo sapiens

Application	Comment	Organism
medicine	patients with PDGFRbeta rearrangement reveal common clinical features resembling chronic myelogenous leukemia or chronic myelomonocytic leukemia. FGFR3 is involved peripheral T cell lymphoma	Homo sapiens

Protein Variants	Comment	Organism
D816F	c-Kit mutant, in patients with aggressive mastocytosis or AML patients	Homo sapiens
D816H	c-Kit mutant, in patients with aggressive mastocytosis or AML patients	Homo sapiens
D816V	c-Kit mutant, in patients with aggressive mastocytosis or AML patients	Homo sapiens
D816V	FLT3 mutant, in 7% of AML patients	Homo sapiens
D816Y	c-Kit mutant, in patients with aggressive mastocytosis or AML patients	Homo sapiens
D835Y	FLT3 mutant, in 7% of AML patients	Homo sapiens
DELTA(T573-H579)	c-Kit mutant, juxtamembrane mutation	Mus musculus
K650E	FGFR3 mutant, activating mutation	Homo sapiens
additional information	c-Kit mutant, juxtamembrane mutation	Canis lupus familiaris
additional information	c-Kit mutants harboring extracellular domain mutations are not constitutively active, whereas extracellular domain mutants of c-FMS are constitutively active and oncogenic. Extracellular domain mutation of FGFR disturbs the autoinhibitory mechanism, resulting in constitutive acitvation	Homo sapiens
V560G	c-Kit mutant, juxtamembrane mutation	Homo sapiens
Y719F	c-Kit mutant, does not abolish kinase activity	Homo sapiens
Y719F	c-Kit mutant, knock-in mouse, which does not show an apparent abnormality in hematopoiesis	Mus musculus

Inhibitors	Comment	Organism
CEP701	inhibits FLT3	Homo sapiens
imatinib	inhibits c-Kit and PDGFR	Homo sapiens
MLN518	inhibits FLT3	Homo sapiens
PKC412	inhibits FLT3	Homo sapiens
SU11248	inhibits FLT3	Homo sapiens

Localization	Comment	Organism	GeneOntology No.	Textmining
membrane	RTKs consist of an extracellular ligand-binding domain, a transmembrane domain, a highly conserved intracellular kinase domain and a C-terminal tail	Homo sapiens	16020	-

Organism	UniProt	Comment	Textmining
Canis lupus familiaris	O97799	-	-
Homo sapiens	-	-	-
Mus musculus	-	-	-

Source Tissue	Comment	Organism	Textmining
FM3A cell	-	Mus musculus	-
HMC-1 cell	-	Homo sapiens	-
additional information	mast cell tumor cell	Canis lupus familiaris	-

Synonyms	Comment	Organism
c-fms	-	Homo sapiens
c-kit	-	Mus musculus
c-kit	-	Homo sapiens
c-kit	-	Canis lupus familiaris
CSF-1R	-	Homo sapiens
epidermal growth factor receptor	-	Homo sapiens
FGFR3	-	Homo sapiens
fibroblast growth factor receptor	-	Homo sapiens
FLT3	-	Homo sapiens
IGF-1 receptor	-	Homo sapiens
insulin-growth factor-1 receptor	-	Homo sapiens
PDGF receptor	-	Homo sapiens
PDGFRalpha	-	Homo sapiens
PDGFRbeta	-	Homo sapiens
platelet-derived growth factor receptor	-	Homo sapiens
receptor for macrophage colony-stimulating factor	-	Homo sapiens
receptor for stem cell factor	-	Homo sapiens
receptor tyrosine kinase	-	Mus musculus
receptor tyrosine kinase	-	Homo sapiens
receptor tyrosine kinase	-	Canis lupus familiaris
RTKs	-	Mus musculus
RTKs	-	Homo sapiens
RTKs	-	Canis lupus familiaris