Details for: KIT

Gene ID: 3815

Symbol: KIT

Ensembl ID: ENSG00000157404

Description: KIT proto-oncogene, receptor tyrosine kinase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 3.34
    Marker Score: 2673.5
  • Cell Name: basophil (CL0000767)
    Fold Change: 3.14
    Marker Score: 1493
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.64
    Marker Score: 1391
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.42
    Marker Score: 36202
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.99
    Marker Score: 3301
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 1.87
    Marker Score: 5268
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 1.75
    Marker Score: 395
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.62
    Marker Score: 473
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 1.54
    Marker Score: 338
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.29
    Marker Score: 1618.5
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 1.16
    Marker Score: 416
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4797
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.11
    Marker Score: 1222
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.1
    Marker Score: 2092
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.09
    Marker Score: 793
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.09
    Marker Score: 581
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.07
    Marker Score: 8188
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.07
    Marker Score: 724
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.04
    Marker Score: 4789
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71805.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48030
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 498.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 15032
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 453
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.95
    Marker Score: 425
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.92
    Marker Score: 319
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.92
    Marker Score: 34836
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.91
    Marker Score: 549
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 365
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5177
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 317
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.88
    Marker Score: 217
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5281
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.86
    Marker Score: 1970
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.85
    Marker Score: 1217
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.84
    Marker Score: 410
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.81
    Marker Score: 469
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1251
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 388
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 550
  • Cell Name: CD34-positive, CD56-positive, CD117-positive common innate lymphoid precursor, human (CL0001074)
    Fold Change: 0.69
    Marker Score: 191
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.69
    Marker Score: 1217
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.67
    Marker Score: 169
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.66
    Marker Score: 406
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.63
    Marker Score: 217
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.63
    Marker Score: 219
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.62
    Marker Score: 150
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.6
    Marker Score: 194
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.59
    Marker Score: 1393
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.57
    Marker Score: 695
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.56
    Marker Score: 181
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.55
    Marker Score: 198
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.54
    Marker Score: 344
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.53
    Marker Score: 222
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.53
    Marker Score: 334
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.52
    Marker Score: 558
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.52
    Marker Score: 472
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: 0.51
    Marker Score: 162
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.5
    Marker Score: 337
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.5
    Marker Score: 472
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.47
    Marker Score: 131
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.46
    Marker Score: 227
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.46
    Marker Score: 214.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.46
    Marker Score: 480
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.46
    Marker Score: 208
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.45
    Marker Score: 1740
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.45
    Marker Score: 104
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.44
    Marker Score: 321
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.44
    Marker Score: 233
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.42
    Marker Score: 122
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.42
    Marker Score: 125
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.42
    Marker Score: 3123
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.41
    Marker Score: 197
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.41
    Marker Score: 230.5
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.41
    Marker Score: 442
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.41
    Marker Score: 354
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.4
    Marker Score: 316
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4
    Marker Score: 155
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.4
    Marker Score: 126
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.39
    Marker Score: 118
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.38
    Marker Score: 189
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.37
    Marker Score: 118
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.37
    Marker Score: 619
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.37
    Marker Score: 4825.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.36
    Marker Score: 149
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.35
    Marker Score: 93
  • Cell Name: brush cell of trachebronchial tree (CL0002075)
    Fold Change: 0.35
    Marker Score: 108
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.34
    Marker Score: 147
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.33
    Marker Score: 450
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.33
    Marker Score: 1372
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.33
    Marker Score: 329
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.32
    Marker Score: 476
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.32
    Marker Score: 1334
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.32
    Marker Score: 156

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * KIT is a transmembrane protein with a single extracellular domain and a cytoplasmic domain that contains a tyrosine kinase domain. * It is a member of the KIT family of receptor tyrosine kinases, which are a large family of proteins that are involved in a variety of cellular processes, including cell growth, differentiation, and survival. * KIT is expressed in a variety of cell types, including cancer cells, embryonic stem cells, and immune cells. * It is a key regulator of cell growth and differentiation, and its expression is often upregulated in cancer cells. * KIT mutations are implicated in a number of human cancers, including breast cancer, colon cancer, and leukemia. **Pathways and functions:** * KIT is a key regulator of cell growth and differentiation. * It is a downstream target for a number of growth factor signaling pathways, including the PI3K/AKT pathway. * KIT mutations can lead to the activation of the PI3K/AKT pathway, which is a major driver of cell growth and proliferation. * This can lead to the survival of cancer cells and the development of cancer. **Clinical significance:** * KIT is a promising target for cancer therapy. * Inhibition of KIT signaling has been shown to be effective in inhibiting cancer growth and metastasis. * Clinical trials of KIT inhibitors are currently underway in a variety of cancer types. **Additional information:** * KIT is a highly conserved protein, with a similar protein found in humans, mice, and rats. * It is a well-documented target for cancer therapy. * KIT inhibitors have been shown to be effective in improving the survival and quality of life of cancer patients.

Genular Protein ID: 4039253018

Symbol: KIT_HUMAN

Name: Mast/stem cell growth factor receptor Kit

UniProtKB Accession Codes:

P10721 B5A956 D5LXN2 D5M931 F5H8F8 Q6IQ28 Q99662 Q9UM99

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 3 CORUM 1 CPTAC 2 CTD 1 CarbonylDB 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 22 DrugCentral 1 EC 2 EMBL 28 EPD 1 Ensembl 2 EvolutionaryTrace 1 GO 87 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 14 KEGG 1 MANE-Select 1 MIM 12 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 18 OrthoDB 1 PANTHER 2 PDB 48 PDBsum 34 PIR 1 PIRSF 2 PRO 1 PROSITE 5 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 19 RefSeq 2 Rhea 3 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2448137

Title: Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.

PubMed ID: 2448137

DOI: 10.1002/j.1460-2075.1987.tb02655.x

PubMed ID: 1279499

Title: Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene.

PubMed ID: 1279499

PubMed ID: 7505199

Title: Complementary DNA cloning and characterization of truncated form of c-kit in human colon carcinoma cells.

PubMed ID: 7505199

PubMed ID: 9027509

Title: Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes.

PubMed ID: 9027509

DOI: 10.1006/geno.1996.4482

PubMed ID: 15039213

Title: Expression of a truncated form of the c-Kit tyrosine kinase receptor and activation of Src kinase in human prostatic cancer.

PubMed ID: 15039213

DOI: 10.1016/s0002-9440(10)63212-9

PubMed ID: 20658618

Title: Retinoic acid enhances sensitivity of neuroblastoma cells for imatinib mesylate.

PubMed ID: 20658618

DOI: 10.1002/pbc.22603

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18593464

Title: Novel splice variants derived from the receptor tyrosine kinase superfamily are potential therapeutics for rheumatoid arthritis.

PubMed ID: 18593464

DOI: 10.1186/ar2447

PubMed ID: 7506248

Title: Characterization of the promoter region of the human c-kit proto-oncogene.

PubMed ID: 7506248

DOI: 10.1111/j.1349-7006.1993.tb02813.x

PubMed ID: 7520444

Title: Modulation of Kit/stem cell factor receptor-induced signaling by protein kinase C.

PubMed ID: 7520444

DOI: 10.1016/s0021-9258(17)31874-4

PubMed ID: 7539802

Title: Identification of the major phosphorylation sites for protein kinase C in kit/stem cell factor receptor in vitro and in intact cells.

PubMed ID: 7539802

DOI: 10.1074/jbc.270.23.14192

PubMed ID: 9038210

Title: Direct association of Csk homologous kinase (CHK) with the diphosphorylated site Tyr568/570 of the activated c-KIT in megakaryocytes.

PubMed ID: 9038210

DOI: 10.1074/jbc.272.9.5915

PubMed ID: 9341198

Title: Lyn associates with the juxtamembrane region of c-Kit and is activated by stem cell factor in hematopoietic cell lines and normal progenitor cells.

PubMed ID: 9341198

DOI: 10.1074/jbc.272.43.27450

PubMed ID: 9528781

Title: SHP-1 binds and negatively modulates the c-Kit receptor by interaction with tyrosine 569 in the c-Kit juxtamembrane domain.

PubMed ID: 9528781

DOI: 10.1128/mcb.18.4.2089

PubMed ID: 10377264

Title: Identification of Tyr-703 and Tyr-936 as the primary association sites for Grb2 and Grb7 in the c-Kit/stem cell factor receptor.

PubMed ID: 10377264

DOI: 10.1042/bj3410211

PubMed ID: 10397721

Title: The receptor protein tyrosine phosphatase, PTP-RO, is upregulated during megakaryocyte differentiation and is associated with the c-Kit receptor.

PubMed ID: 10397721

PubMed ID: 11018522

Title: The direct association of the multiple PDZ domain containing proteins (MUPP-1) with the human c-Kit C-terminus is regulated by tyrosine kinase activity.

PubMed ID: 11018522

DOI: 10.1016/s0014-5793(00)02036-6

PubMed ID: 11825908

Title: Phosphatidylinositol 3-kinase and Src family kinases are required for phosphorylation and membrane recruitment of Dok-1 in c-Kit signaling.

PubMed ID: 11825908

DOI: 10.1074/jbc.m200277200

PubMed ID: 12444928

Title: The adapter protein APS associates with the multifunctional docking sites Tyr-568 and Tyr-936 in c-Kit.

PubMed ID: 12444928

DOI: 10.1042/bj20020716

PubMed ID: 12878163

Title: Identification of Tyr900 in the kinase domain of c-Kit as a Src-dependent phosphorylation site mediating interaction with c-Crk.

PubMed ID: 12878163

DOI: 10.1016/s0014-4827(03)00206-4

PubMed ID: 12511554

Title: Src family kinases are involved in the differential signaling from two splice forms of c-Kit.

PubMed ID: 12511554

DOI: 10.1074/jbc.m211726200

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 17595334

Title: The tyrosine kinase FES is an essential effector of KITD816V proliferation signal.

PubMed ID: 17595334

DOI: 10.1182/blood-2007-02-076471

PubMed ID: 17904548

Title: Grb2 mediates negative regulation of stem cell factor receptor/c-Kit signaling by recruitment of Cbl.

PubMed ID: 17904548

DOI: 10.1016/j.yexcr.2007.08.021

PubMed ID: 19265199

Title: The D816V mutation of c-Kit circumvents a requirement for Src family kinases in c-Kit signal transduction.

PubMed ID: 19265199

DOI: 10.1074/jbc.m808058200

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 20601678

Title: Expression of a truncated form of KIT tyrosine kinase in human spermatozoa correlates with sperm DNA integrity.

PubMed ID: 20601678

DOI: 10.1093/humrep/deq168

PubMed ID: 20147452

Title: Function of activation loop tyrosine phosphorylation in the mechanism of c-Kit auto-activation and its implication in sunitinib resistance.

PubMed ID: 20147452

DOI: 10.1093/jb/mvq015

PubMed ID: 21640708

Title: Mechanism of activation of human c-KIT kinase by internal tandem duplications of the juxtamembrane domain and point mutations at aspartic acid 816.

PubMed ID: 21640708

DOI: 10.1016/j.bbrc.2011.05.111

PubMed ID: 21135090

Title: Mechanisms of STAT protein activation by oncogenic KIT mutants in neoplastic mast cells.

PubMed ID: 21135090

DOI: 10.1074/jbc.m110.182642

PubMed ID: 15526160

Title: Signal transduction via the stem cell factor receptor/c-Kit.

PubMed ID: 15526160

DOI: 10.1007/s00018-004-4189-6

PubMed ID: 16129412

Title: Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor.

PubMed ID: 16129412

DOI: 10.1016/j.bbrc.2005.08.055

PubMed ID: 15625120

Title: Normal and oncogenic forms of the receptor tyrosine kinase kit.

PubMed ID: 15625120

DOI: 10.1634/stemcells.2004-0117

PubMed ID: 18381929

Title: Regulation of hematopoietic stem cells by the steel factor/KIT signaling pathway.

PubMed ID: 18381929

DOI: 10.1158/1078-0432.ccr-07-5134

PubMed ID: 21057534

Title: Tumor-intrinsic and -extrinsic roles of c-Kit: mast cells as the primary off-target of tyrosine kinase inhibitors.

PubMed ID: 21057534

DOI: 10.1038/onc.2010.494

PubMed ID: 12824176

Title: Structure of a c-kit product complex reveals the basis for kinase transactivation.

PubMed ID: 12824176

DOI: 10.1074/jbc.c300186200

PubMed ID: 15123710

Title: Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase.

PubMed ID: 15123710

DOI: 10.1074/jbc.m403319200

PubMed ID: 17662946

Title: Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor.

PubMed ID: 17662946

DOI: 10.1016/j.cell.2007.05.055

PubMed ID: 19164557

Title: KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients.

PubMed ID: 19164557

DOI: 10.1073/pnas.0812413106

PubMed ID: 21030588

Title: Structural basis for c-KIT inhibition by the suppressor of cytokine signaling 6 (SOCS6) ubiquitin ligase.

PubMed ID: 21030588

DOI: 10.1074/jbc.m110.173526

PubMed ID: 1376329

Title: Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.

PubMed ID: 1376329

DOI: 10.1172/jci115772

PubMed ID: 1370874

Title: Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

PubMed ID: 1370874

PubMed ID: 1717985

Title: Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

PubMed ID: 1717985

DOI: 10.1073/pnas.88.19.8696

PubMed ID: 7691885

Title: Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product.

PubMed ID: 7691885

DOI: 10.1172/jci116761

PubMed ID: 7687267

Title: Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

PubMed ID: 7687267

DOI: 10.1111/1523-1747.ep12358440

PubMed ID: 8680409

Title: A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism.

PubMed ID: 8680409

DOI: 10.1002/humu.1380060409

PubMed ID: 9029028

Title: A new c-kit mutation in a case of aggressive mast cell disease.

PubMed ID: 9029028

DOI: 10.1046/j.1365-2141.1997.d01-2042.x

PubMed ID: 9450866

Title: Piebaldism with deafness: molecular evidence for an expanded syndrome.

PubMed ID: 9450866

DOI: 10.1002/(sici)1096-8628(19980106)75:1<101::aid-ajmg20>3.0.co;2-p

PubMed ID: 9657776

Title: c-kit activating mutations and mast cell proliferation in human leukemia.

PubMed ID: 9657776

PubMed ID: 9699740

Title: A novel KIT gene missense mutation in a Japanese family with piebaldism.

PubMed ID: 9699740

DOI: 10.1046/j.1523-1747.1998.00269.x

PubMed ID: 9697690

Title: Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.

PubMed ID: 9697690

DOI: 10.1038/1209

PubMed ID: 9438854

Title: Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.

PubMed ID: 9438854

DOI: 10.1126/science.279.5350.577

PubMed ID: 10362788

Title: Activating c-kit gene mutations in human germ cell tumors.

PubMed ID: 10362788

DOI: 10.1016/s0002-9440(10)65419-3

PubMed ID: 9990072

Title: Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.

PubMed ID: 9990072

DOI: 10.1073/pnas.96.4.1609

PubMed ID: 11074500

Title: Three novel mutations of the proto-oncogene KIT cause human piebaldism.

PubMed ID: 11074500

DOI: 10.1002/1096-8628(20001106)95:1<79::aid-ajmg16>3.0.co;2-4

PubMed ID: 11505412

Title: Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.

PubMed ID: 11505412

DOI: 10.1002/1097-0142(20010801)92:3<657::aid-cncr1367>3.0.co;2-d

PubMed ID: 15173254

Title: A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

PubMed ID: 15173254

DOI: 10.1136/jmg.2003.015156

PubMed ID: 15824741

Title: A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.

PubMed ID: 15824741

DOI: 10.1038/sj.onc.1208587

PubMed ID: 16175573

Title: Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.

PubMed ID: 16175573

DOI: 10.1002/gcc.20265

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19865100

Title: Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

PubMed ID: 19865100

DOI: 10.1038/jid.2009.281

PubMed ID: 21689725

Title: Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

PubMed ID: 21689725

DOI: 10.1016/j.exphem.2011.05.009

PubMed ID: 24289326

Title: A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

PubMed ID: 24289326

DOI: 10.1111/ced.12225

Sequence Information:

  • Length: 976
  • Mass: 109865
  • Checksum: 81B0CD76817F3454
  • Sequence:
    • MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD 
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV 
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH 
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS 
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN 
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE 
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILTYDR 
LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG KLVVQSSIDS 
SAFKHNGTVE CKAYNDVGKT SAYFNFAFKG NNKEQIHPHT LFTPLLIGFV IVAGMMCIIV 
MILTYKYLQK PMYEVQWKVV EEINGNNYVY IDPTQLPYDH KWEFPRNRLS FGKTLGAGAF 
GKVVEATAYG LIKSDAAMTV AVKMLKPSAH LTEREALMSE LKVLSYLGNH MNIVNLLGAC 
TIGGPTLVIT EYCCYGDLLN FLRRKRDSFI CSKQEDHAEA ALYKNLLHSK ESSCSDSTNE 
YMDMKPGVSY VVPTKADKRR SVRIGSYIER DVTPAIMEDD ELALDLEDLL SFSYQVAKGM 
AFLASKNCIH RDLAARNILL THGRITKICD FGLARDIKND SNYVVKGNAR LPVKWMAPES 
IFNCVYTFES DVWSYGIFLW ELFSLGSSPY PGMPVDSKFY KMIKEGFRML SPEHAPAEMY 
DIMKTCWDAD PLKRPTFKQI VQLIEKQISE STNHIYSNLA NCSPNRQKPV VDHSVRINSV 
GSTASSSQPL LVHDDV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.