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KIT (KIT proto-oncogene receptor tyrosine kinase)

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The Function of KIT

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.

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Protein names

Recommended name:

Mast/stem cell growth factor receptor Kit

Short name:

PBT

Alternative name(s):

SCFR
Piebald trait protein
Proto-oncogene c-Kit
Tyrosine-protein kinase Kit
p145 c-kit
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
CD antigen CD117

KIT SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS11345859 (KIT) ??
  2. RS2537859 (KIT) ??

Top Gene-Substance Interactions

KIT Interacts with These Diseases

Disease Score

Substances That Increase KIT

Substances Interaction Organism Category

Substances That Decrease KIT

Substances Interaction Organism Category

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • Sp1
  • AP-2gamma
  • NF-1
  • p53
  • STAT3
  • GATA-2
  • STAT1
  • STAT1alpha

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.

Gene Pathways:

  • Immune System
  • Acute myeloid leukemia
  • Pathways in cancer
  • Melanogenesis
  • Signal Transduction
  • Cytokine-cytokine receptor interaction
  • Hematopoietic cell lineage
  • Disease

Induction:

Up-regulated by cis-retinoic acid in neuroblastoma cell lines.

Enzyme Regulation:

Present in an inactive conformation in the absence of bound ligand. KITLG/SCF binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Activity is down-regulated by PRKCA-mediated phosphorylation on serine residues. Inhibited by imatinib/STI-571 (Gleevec) and sunitinib; these compounds maintain the kinase in an inactive conformation.

Molecular Function:

  • Protein Tyrosine Kinase Activity
  • Transmembrane Receptor Protein Tyrosine Kinase Activity
  • Signal Transducer, Downstream Of Receptor, With Protein Tyrosine Kinase Activity
  • Stem Cell Factor Receptor Activity
  • Ras Guanyl-Nucleotide Exchange Factor Activity
  • Atp Binding
  • Cytokine Binding
  • Protein Homodimerization Activity
  • Metal Ion Binding
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Activity

Biological Processes:

  • Mapk Cascade
  • Activation Of Mapk Activity
  • Ovarian Follicle Development
  • Myeloid Progenitor Cell Differentiation
  • Lymphoid Progenitor Cell Differentiation
  • Immature B Cell Differentiation
  • Dendritic Cell Cytokine Production
  • Mast Cell Chemotaxis
  • Glycosphingolipid Metabolic Process
  • Inflammatory Response
  • Signal Transduction
  • Spermatogenesis
  • Spermatid Development
  • Positive Regulation Of Cell Proliferation
  • Germ Cell Migration
  • Regulation Of Cell Shape
  • Visual Learning
  • Male Gonad Development
  • Positive Regulation Of Gene Expression
  • Positive Regulation Of Phospholipase C Activity
  • Regulation Of Phosphatidylinositol 3-Kinase Signaling
  • Positive Regulation Of Phosphatidylinositol 3-Kinase Signaling
  • Peptidyl-Tyrosine Phosphorylation
  • Cytokine-Mediated Signaling Pathway
  • Stem Cell Population Maintenance
  • Lamellipodium Assembly
  • Hemopoiesis
  • T Cell Differentiation
  • Erythrocyte Differentiation
  • Melanocyte Differentiation
  • Positive Regulation Of Cell Migration
  • Positive Regulation Of Pseudopodium Assembly
  • Actin Cytoskeleton Reorganization
  • Mast Cell Cytokine Production
  • Somatic Stem Cell Population Maintenance
  • Embryonic Hemopoiesis
  • Ectopic Germ Cell Programmed Cell Death
  • Hematopoietic Stem Cell Migration
  • Megakaryocyte Development
  • Fc Receptor Signaling Pathway
  • Kit Signaling Pathway
  • Erythropoietin-Mediated Signaling Pathway
  • Regulation Of Cell Proliferation
  • Positive Regulation Of Tyrosine Phosphorylation Of Stat1 Protein
  • Positive Regulation Of Tyrosine Phosphorylation Of Stat3 Protein
  • Positive Regulation Of Tyrosine Phosphorylation Of Stat5 Protein
  • Negative Regulation Of Programmed Cell Death
  • Mast Cell Degranulation
  • Positive Regulation Of Mapk Cascade
  • Pigmentation
  • Positive Regulation Of Phosphatidylinositol 3-Kinase Activity
  • Positive Regulation Of Notch Signaling Pathway
  • Positive Regulation Of Jak-Stat Cascade
  • Protein Autophosphorylation
  • Phosphatidylinositol-Mediated Signaling
  • Regulation Of Developmental Pigmentation
  • Somatic Stem Cell Division
  • Positive Regulation Of Long-Term Neuronal Synaptic Plasticity
  • Digestive Tract Development
  • Stem Cell Differentiation
  • Epithelial Cell Proliferation
  • Detection Of Mechanical Stimulus Involved In Sensory Perception Of Sound
  • Positive Regulation Of Sequence-Specific Dna Binding Transcription Factor Activity
  • Cell Chemotaxis
  • Mast Cell Differentiation
  • Mast Cell Proliferation
  • Cellular Response To Thyroid Hormone Stimulus
  • Melanocyte Migration
  • Melanocyte Adhesion
  • Positive Regulation Of Vascular Smooth Muscle Cell Differentiation

Drug Bank:

  • Imatinib
  • Nilotinib
  • Pazopanib
  • Ponatinib
  • Regorafenib
  • Sorafenib
  • Dasatinib
  • Lenvatinib
  • Sunitinib
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| W| MGF| protein kinase| A306_08934| AS27_13355| AS28_04942| belly-spot| Bs| caprine c-kit protein| CB1_000310014| CD117| c-KIT| c-KIT gene1| c-Kit protooncogene| c-kit proto-oncogene protein| c-kit receptor| c-kit receptor tyrosine kinase| D623_10026767| dominant spotting| Dominant white spotting| EGK_15881| Fdc| Gsfsco1| Gsfsco5| Gsfsow3| GW7_12194| H920_12153| I79_025193| kita| kit-a| kit-b| Kit oncogene| kit receptor a| krk1| M91_09068| M959_12726| mast cell growth factor receptor| mast/stem cell growth factor receptor| mast/stem cell growth factor receptor isoform-1| mast/stem cell growth factor receptor isoform-2| Mast/stem cell growth factor receptor Kit| Mast/stem cell growth factor receptor kita| MDA_GLEAN10015833| N300_04128| N301_01917| N302_04105| N305_05154| N306_00507| N307_07101| N308_01411| N309_09837| N310_03020| N311_02910| N322_08519| N324_11334| N325_01701| N326_07236| N327_09493| N328_08753| N329_07380| N330_03826| N332_14451| N333_02531| N335_05133| N336_06125| N339_08117| N340_13391| N341_03781| p145 c-kit| PAL_GLEAN10016106| PANDA_008036| PBT| piebald trait protein| proto-oncogene c-Kit| proto-oncogene c-kit receptor| proto-oncogene tyrosine-protein kinase Kit| receptor tyrosine kinase c-kit| scfr| SCO1| SCO5| soluble KIT variant 1| SOW3| spotted sterile male| Ssm| Steel Factor Receptor| transmembrane tyrosine kinase receptor| TREES_T100015843| Tr-kit| tyrosine kinase receptor homolog| tyrosine-protein kinase Kit| UY3_17788| v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog| v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein| v-kit Hardy-Zuckerman 4 feline sarcoma viral oncoprotein| v-kit Hardy-Zuckerman 4 feline sarcoma viral oncoprotein-like protein| xkl-1| Y1Q_030598| Y956_08128| Z169_11274| kit

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