KIT (gene)

KIT
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4U0I, 1PKG, 1T45, 1T46, 2E9W, 2EC8, 2VIF, 3G0E, 3G0F, 4HVS, 4K94, 4K9E, 4PGZ, 2IUH
Identifiers
Aliases	KIT, C-Kit, CD117, PBT, SCFR, KIT proto-oncogene receptor tyrosine kinase, MASTC, KIT proto-oncogene, receptor tyrosine kinase
External IDs	OMIM: 164920; MGI: 96677; HomoloGene: 187; GeneCards: KIT; OMA:KIT - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q12 Start 54,657,918 bp[1] End 54,740,715 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 C3.3|5 39.55 cM Start 75,735,576 bp[2] End 75,817,382 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus secondary oocyte skin of thigh epithelium of lactiferous gland gonad lactiferous duct cardia parotid gland skin of hip visceral pleura Top expressed in lobe of cerebellum cerebellar vermis secondary oocyte primary oocyte zygote gastrula dermis liver parenchyma muscle layer of urethra decidua More reference expression data BioGPS n/a
Gene ontology Molecular function stem cell factor receptor activity kinase activity transmembrane receptor protein tyrosine kinase activity ATP binding cytokine binding protein kinase activity metal ion binding transferase activity protein homodimerization activity protease binding protein binding protein tyrosine kinase activity nucleotide binding phosphatidylinositol-4,5-bisphosphate 3-kinase activity receptor tyrosine kinase transmembrane signaling receptor activity SH2 domain binding Cellular component cytoplasm membrane cell-cell junction cytoplasmic side of plasma membrane cell surface integral component of membrane acrosomal vesicle external side of plasma membrane mast cell granule extracellular space plasma membrane integral component of plasma membrane receptor complex Biological process melanocyte migration myeloid progenitor cell differentiation positive regulation of MAP kinase activity glycosphingolipid metabolic process positive regulation of phospholipase C activity hematopoietic stem cell migration stem cell population maintenance protein phosphorylation T cell differentiation spermatogenesis cell chemotaxis developmental pigmentation melanocyte differentiation positive regulation of Notch signaling pathway lamellipodium assembly cytokine-mediated signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway melanocyte adhesion lymphoid progenitor cell differentiation spermatid development erythrocyte differentiation negative regulation of programmed cell death protein autophosphorylation mast cell degranulation inflammatory response positive regulation of MAPK cascade myeloid leukocyte differentiation male gonad development phosphorylation positive regulation of DNA-binding transcription factor activity epithelial cell proliferation stem cell differentiation detection of mechanical stimulus involved in sensory perception of sound regulation of cell shape ovarian follicle development ectopic germ cell programmed cell death pigmentation Fc receptor signaling pathway response to radiation mast cell cytokine production positive regulation of receptor signaling pathway via JAK-STAT dendritic cell cytokine production visual learning actin cytoskeleton reorganization megakaryocyte development intracellular signal transduction somatic stem cell population maintenance erythropoietin-mediated signaling pathway Kit signaling pathway positive regulation of cell migration somatic stem cell division mast cell chemotaxis MAPK cascade positive regulation of phosphatidylinositol 3-kinase activity positive regulation of pseudopodium assembly positive regulation of gene expression positive regulation of long-term neuronal synaptic plasticity regulation of cell population proliferation cellular response to thyroid hormone stimulus positive regulation of cell population proliferation embryonic hemopoiesis regulation of developmental pigmentation positive regulation of phosphatidylinositol 3-kinase signaling peptidyl-tyrosine phosphorylation mast cell differentiation digestive tract development immature B cell differentiation germ cell migration signal transduction mast cell proliferation positive regulation of vascular associated smooth muscle cell differentiation phosphatidylinositol phosphate biosynthetic process regulation of transcription by RNA polymerase II positive regulation of tyrosine phosphorylation of STAT protein tongue development response to cadmium ion positive regulation of pyloric antrum smooth muscle contraction regulation of bile acid metabolic process positive regulation of small intestine smooth muscle contraction positive regulation of colon smooth muscle contraction positive regulation of protein kinase B signaling hemopoiesis negative regulation of signal transduction cell differentiation negative regulation of apoptotic process positive regulation of ERK1 and ERK2 cascade hematopoietic progenitor cell differentiation B cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3815 16590 Ensembl ENSG00000157404 ENSMUSG00000005672 UniProt P10721 P05532 RefSeq (mRNA) NM_000222 NM_001093772 NM_001122733 NM_021099 RefSeq (protein) NP_000213 NP_001087241 NP_001116205 NP_066922 Location (UCSC) Chr 4: 54.66 – 54.74 Mb Chr 5: 75.74 – 75.82 Mb PubMed search [3] [4]
Wikidata
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Proto-oncogene c-KIT is the gene encoding the receptor tyrosine kinase protein known as tyrosine-protein kinase KIT, CD117 (cluster of differentiation 117) or mast/stem cell growth factor receptor (SCFR).^[5] Multiple transcript variants encoding different isoforms have been found for this gene.^[6][7] KIT was first described by the German biochemist Axel Ullrich in 1987 as the cellular homolog of the feline sarcoma viral oncogene v-kit.^[8]