KIT [The Human Chemical-Genetic Interaction Map Project]

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======= KIT =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KIT
  * **<color #00a2e8>Official Name</color>**: KIT proto-oncogene, receptor tyrosine kinase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3815|3815]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P10721|P10721]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KIT&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KIT|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/164920|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:10397721, ECO:0000269|PubMed:12444928, ECO:0000269|PubMed:12511554, ECO:0000269|PubMed:12878163, ECO:0000269|PubMed:17904548, ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:21135090, ECO:0000269|PubMed:21640708, ECO:0000269|PubMed:7520444, ECO:0000269|PubMed:9528781}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|I-set|
|Pkinase Tyr|
|ig|
|Pkinase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of colon smooth muscle contraction|
|positive regulation of pyloric antrum smooth muscle contraction|
|regulation of pyloric antrum smooth muscle contraction|
|regulation of colon smooth muscle contraction|
|mast cell proliferation|
|melanocyte adhesion|
|stem cell factor receptor activity|
|dendritic cell cytokine production|
|cellular response to stem cell factor stimulus|
|melanocyte migration|
|Kit signaling pathway|
|response to stem cell factor|
|mast cell cytokine production|
|positive regulation of small intestine smooth muscle contraction|
|mast cell differentiation|
|regulation of small intestine smooth muscle contraction|
|hematopoietic stem cell migration|
|myeloid progenitor cell differentiation|
|erythropoietin-mediated signaling pathway|
|mast cell chemotaxis|
|myeloid leukocyte cytokine production|
|mast cell migration|
|positive regulation of long-term neuronal synaptic plasticity|
|positive regulation of gastro-intestinal system smooth muscle contraction|
|positive regulation of vascular smooth muscle cell differentiation|
|cellular response to erythropoietin|
|regulation of gastro-intestinal system smooth muscle contraction|
|ectopic germ cell programmed cell death|
|response to erythropoietin|
|immature B cell differentiation|
|germ cell migration|
|programmed cell death involved in cell development|
|detection of mechanical stimulus involved in sensory perception of sound|
|lymphoid progenitor cell differentiation|
|positive regulation of smooth muscle cell differentiation|
|regulation of bile acid metabolic process|
|positive regulation of pseudopodium assembly|
|regulation of vascular smooth muscle cell differentiation|
|regulation of pseudopodium assembly|
|epithelial cell-cell adhesion|
|cellular response to thyroid hormone stimulus|
|megakaryocyte development|
|mast cell degranulation|
|mast cell activation involved in immune response|
|mast cell mediated immunity|
|tongue development|
|embryonic hemopoiesis|
|megakaryocyte differentiation|
|melanocyte differentiation|
|mast cell granule|
|cytokine production involved in immune response|
|somatic stem cell division|
|mast cell activation|
|bone cell development|
|response to thyroid hormone|
|regulation of long-term neuronal synaptic plasticity|
|detection of mechanical stimulus involved in sensory perception|
|regulation of smooth muscle cell differentiation|
|pigment cell differentiation|
|positive regulation of smooth muscle contraction|
|positive regulation of phosphatidylinositol 3-kinase activity|
|stem cell division|
|lamellipodium assembly|
|positive regulation of lipid kinase activity|
|SH2 domain binding|
|developmental pigmentation|
|cytokine binding|
|lamellipodium organization|
|positive regulation of phospholipase C activity|
|detection of mechanical stimulus|
|lysosome localization|
|positive regulation of muscle contraction|
|regulation of phospholipase C activity|
|positive regulation of phospholipid metabolic process|
|visual learning|
|ovarian follicle development|
|positive regulation of Notch signaling pathway|
|regulation of neuronal synaptic plasticity|
|regulation of phosphatidylinositol 3-kinase activity|
|visual behavior|
|cytoplasmic side of plasma membrane|
|transmembrane receptor protein tyrosine kinase activity|
|myeloid cell development|
|positive regulation of phospholipase activity|
|regulation of smooth muscle contraction|
|regulation of lipid kinase activity|
|glycosphingolipid metabolic process|
|response to cadmium ion|
|somatic stem cell population maintenance|
|actin cytoskeleton reorganization|
|positive regulation of tyrosine phosphorylation of STAT protein|
|regulation of phospholipase activity|
|positive regulation of lipase activity|
|associative learning|
|regulation of tyrosine phosphorylation of STAT protein|
|erythrocyte differentiation|
|epithelial cell migration|
|regulation of phospholipid metabolic process|
|positive regulation of receptor signaling pathway via JAK-STAT|
|positive regulation of phosphatidylinositol 3-kinase signaling|
|hematopoietic progenitor cell differentiation|
|epithelial cell proliferation|
|acrosomal vesicle|
|positive regulation of muscle cell differentiation|
|epithelium migration|
|positive regulation of receptor signaling pathway via STAT|
|protein tyrosine kinase activity|
|female gonad development|
|erythrocyte homeostasis|
|pigmentation|
|development of primary female sexual characteristics|
|tissue migration|
|regulation of lipase activity|
|leukocyte proliferation|
|positive regulation of plasma membrane bounded cell projection assembly|
|regulation of Notch signaling pathway|
|protease binding|
|female sex differentiation|
|myeloid cell homeostasis|
|B cell differentiation|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|myeloid leukocyte differentiation|
|regulation of steroid metabolic process|
|detection of external stimulus|
|regulation of phosphatidylinositol 3-kinase signaling|
|detection of abiotic stimulus|
|myeloid leukocyte migration|
|regulation of receptor signaling pathway via JAK-STAT|
|digestive tract development|
|regulation of receptor signaling pathway via STAT|
|male gonad development|
|stem cell population maintenance|
|development of primary male sexual characteristics|
|T cell differentiation|
|maintenance of cell number|
|positive regulation of lipid metabolic process|
|digestive system development|
|peptidyl-tyrosine phosphorylation|
|leukocyte chemotaxis|
|learning|
|sensory perception of sound|
|peptidyl-tyrosine modification|
|cytokine production|
|spermatid development|
|regulation of cell shape|
|regulation of muscle cell differentiation|
|B cell activation|
|activation of MAPK activity|
|sphingolipid metabolic process|
|spermatid differentiation|
|male sex differentiation|
|stem cell differentiation|
|regulation of muscle contraction|
|positive regulation of protein kinase B signaling|
|sensory perception of mechanical stimulus|
|ameboidal-type cell migration|
|cell-cell junction|
|production of molecular mediator of immune response|
|positive regulation of vasculature development|
|regulation of synaptic plasticity|
|positive regulation of peptidyl-tyrosine phosphorylation|
|protein autophosphorylation|
|homeostasis of number of cells|
|regulation of plasma membrane bounded cell projection assembly|
|bone development|
|regulation of cell projection assembly|
|membrane lipid metabolic process|
|receptor complex|
|cell chemotaxis|
|gonad development|
|positive regulation of ERK1 and ERK2 cascade|
|response to mechanical stimulus|
|development of primary sexual characteristics|
|regulation of protein kinase B signaling|
|myeloid cell differentiation|
|T cell activation|
|regulation of muscle system process|
|lymphocyte differentiation|
|Fc receptor signaling pathway|
|regulation of peptidyl-tyrosine phosphorylation|
|germ cell development|
|learning or memory|
|positive regulation of DNA-binding transcription factor activity|
|positive regulation of MAP kinase activity|
|sex differentiation|
|regulation of ERK1 and ERK2 cascade|
|cognition|
|response to light stimulus|
|regulation of vasculature development|
|activation of protein kinase activity|
|leukocyte differentiation|
|positive regulation of protein serine/threonine kinase activity|
|regulation of MAP kinase activity|
|cellular process involved in reproduction in multicellular organism|
|establishment of organelle localization|
|response to metal ion|
|MAPK cascade|
|leukocyte migration|
|positive regulation of cell projection organization|
|lymphocyte activation|
|signal transduction by protein phosphorylation|
|external side of plasma membrane|
|regulation of lipid metabolic process|
|reproductive structure development|
|regulation of small molecule metabolic process|
|regulation of DNA-binding transcription factor activity|
|reproductive system development|
|embryonic organ development|
|response to radiation|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|positive regulation of neurogenesis|
|immune response-regulating cell surface receptor signaling pathway|
|regulation of cell morphogenesis|
|cell division|
|actin cytoskeleton organization|
|skeletal system development|
|inflammatory response|
|positive regulation of cell migration|
|cell-cell adhesion|
|leukocyte degranulation|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|regulation of protein serine/threonine kinase activity|
|myeloid leukocyte mediated immunity|
|positive regulation of cellular component biogenesis|
|positive regulation of cell motility|
|myeloid cell activation involved in immune response|
|response to inorganic substance|
|positive regulation of protein kinase activity|
|positive regulation of nervous system development|
|positive regulation of cellular component movement|
|positive regulation of cell development|
|positive regulation of MAPK cascade|
|detection of stimulus involved in sensory perception|
|spermatogenesis|
|sensory organ development|
|chemotaxis|
|taxis|
|positive regulation of locomotion|
|cell population proliferation|
|hemopoiesis|
|male gamete generation|
|actin filament-based process|
|behavior|
|positive regulation of kinase activity|
|organelle localization|
|myeloid leukocyte activation|
|regulation of system process|
|immune response-regulating signaling pathway|
|cellular response to hormone stimulus|
|hematopoietic or lymphoid organ development|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|immune system development|
|positive regulation of transferase activity|
|developmental process involved in reproduction|
|cytokine-mediated signaling pathway|
|detection of stimulus|
|gamete generation|
|regulation of plasma membrane bounded cell projection organization|
|regulated exocytosis|
|regulation of cell projection organization|
|enzyme linked receptor protein signaling pathway|
|regulation of MAPK cascade|
|leukocyte mediated immunity|
|positive regulation of hydrolase activity|
|exocytosis|
|regulation of protein kinase activity|
|regulation of neurogenesis|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|tube development|
|regulation of cell migration|
|regulation of kinase activity|
|protein homodimerization activity|
|peptidyl-amino acid modification|
|negative regulation of programmed cell death|
|response to hormone|
|regulation of cell motility|
|positive regulation of cell population proliferation|
|regulation of nervous system development|
|leukocyte activation|
|cell adhesion|
|regulation of cell development|
|biological adhesion|
|cellular lipid metabolic process|
|regulation of cellular component biogenesis|
|cell migration|
|positive regulation of cell differentiation|
|sensory perception|
|protein phosphorylation|
|regulation of transferase activity|
|embryo development|
|regulation of locomotion|
|regulation of cellular component movement|
|negative regulation of cell death|
|multi-organism reproductive process|
|secretion by cell|
|cellular response to cytokine stimulus|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|carbohydrate derivative metabolic process|
|export from cell|
|programmed cell death|
|positive regulation of phosphorylation|
|regulation of anatomical structure morphogenesis|
|cell activation|
|cell motility|
|localization of cell|
|cell death|
|immune effector process|
|response to cytokine|
|cytoskeleton organization|
|secretion|
|plasma membrane bounded cell projection organization|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|regulation of immune response|
|response to abiotic stimulus|
|cell projection organization|
|positive regulation of cellular component organization|
|lipid metabolic process|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|regulation of hydrolase activity|
|phosphorylation|
|locomotion|
|defense response|
|positive regulation of developmental process|
|nervous system process|
|integral component of plasma membrane|
|reproductive process|
|reproduction|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|ATP binding|
|intracellular transport|
|generation of neurons|
|movement of cell or subcellular component|
|regulation of programmed cell death|
|regulation of phosphorylation|
|extracellular space|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|neurogenesis|
|homeostatic process|
|cell development|
|positive regulation of signal transduction|
|regulation of immune system process|
|regulation of cell death|
|intracellular signal transduction|
|positive regulation of protein metabolic process|
|positive regulation of multicellular organismal process|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of protein modification process|
|immune response|
|vesicle-mediated transport|
|system process|
|positive regulation of gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp38|Wortmannin 5μM R00 exp38]]|1.91|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|1/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4261
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.09 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KIT Expression in NALM6 Cells: 4.09'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>