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FLASH GENE
Symbol KIT contributors: mct/npt/pgu - updated : 07-01-2014
HGNC name v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
HGNC id 6342
Corresponding disease
FGIST predisposition to familial gastrointestinal stromal tumors
FMST mastocytosis
PBT1 piebald trait 1
Location 4q12      Physical location : 55.524.094 - 55.606.879
Synonym name
  • mast/stem cell factor
  • proto-oncogen1e tyrosine-protein kinase Kit
  • soluble KIT variant 1
  • CD117 antigen
  • Synonym symbol(s) SCFR, CD117, C-Kit
    EC.number 2.7.10.1
    DNA
    TYPE functioning gene
    STRUCTURE 82.79 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    KIAA0114 4q12 KIAA0114 gene product FLJ12684 4q12 hypothetical protein FLJ12684 MGC2827 4q12 hypothetical protein MGC2827 STXBP1L1 FIP1L1 4q11-q12 FIP1 like 1 (S. cerevisiae) LNX 4q12 ligand of numb-protein X LOC391653 4 hypothetical gene supported by BC057822 CHIC2 4q11-q12 cysteine-rich hydrophobic domain 2 GSH-2 4q11-q12 homeobox protein GSH-2 PDGFRA 4q11-q12 platelet-derived growth factor receptor, alpha polypeptide LOC254938 4q12 hypothetical LOC254938 KIT 4q12 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog KDR 4q12 kinase insert domain receptor (a type III receptor tyrosine kinase) FLJ13352 4q12 hypothetical protein FLJ13352 TPARL 4q12 TPA regulated locus CLOCK 4q12 clock homolog (mouse) GCPHLP 4q12 likely ortholog of mouse germ cell-specific phosphoducin-like protein Mgcphlp NMU 4q12 neuromedin U SEC3 FLJ13621 4q12 hypothetical protein FLJ13621 KIAA0635 4q12-q13.3 hypothetical protein FLJ13621 KIAA1211 4q12 KIAA1211 protein MRPL22P1 4q12 KIAA1211 protein NRPS998 4q12 2-aminoadipic 6-semialdehyde dehydrogenase PPAT 4q12 phosphoribosyl pyrophosphate amidotransferase PAICS 4q12 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase SRP72 1q32 signal recognition particle 72kDa LOC132946 4q12 similar to MGC69138 protein LOC391654 4 LOC391654 GLDCP 4q12 glycine dehydrogenase (decarboxylase) pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 5190 109.7 976 - 2008 18697750
    21 - 5178 109.3 972 - 2008 18697750
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly Homo sapiens
     pancreas     Homo sapiens
     thyroid     Homo sapiens
    Reproductivemale systemmale genital tractseminiferous tubule highly Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningendometrium   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic Homo sapiens
    Blood/Hematopoieticmegakaryocyte Homo sapiens
    Blood/Hematopoieticprogenitor cell Homo sapiens
    not specificmast cell Homo sapiens
    Reproductiveepithelial cell Homo sapiens
    Skin/Tegumentmelanocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five immunoglobulin-like C2-type domain
  • HOMOLOGY
    interspecies homolog to feline Hardy-Zuckerman 4 sarcoma viral (v-kit or c-kit) oncogene
    homolog to murine dominant spotting
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • CSF-1/PDGF receptor subfamily
  • CATEGORY enzyme , protooncogene , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text type 1 membrane protein
    basic FUNCTION
  • receptor tyrosine kinase,class III
  • stem cell factor receptor playing an important physiological role in hematopoiesis, melanogenesis, and gametogenesis
  • involved in activation of PI3K, dependent both on the direct PI3K-binding site in KIT and on the phosphorylation of GAB2
  • tyrosine kinase receptor involved in the proliferation, differentiation, and secretory functions of various cells
  • may be playing a role in regulating adrenocorticotropic hormone, and may be involved in the pituitary-adrenal axis regulation (ACTH) secretion
  • KIT signaling regulates MITF expression through miRNAs in normal and malignant mast cell proliferation
  • defines distinct progenitor populations in the mammary epithelium and is critical for mammary progenitor survival and proliferation
  • KIT/KITLG system may play a role in corneal wound healing through epithelial cell attachment
  • common marker for multipotential stem cells
  • KIT activation is essential for the maturation, survival and proliferation of mast cells
  • stem cell factor-dependent KIT activation is an essential process for mast cell homeostasis
  • receptor tyrosine kinase, also known as the stem cell factor receptor, playing a key role in several developmental processes
  • potential role for KIT signaling in perinatal oocyte cyst breakdown that may be mediated by MAP Kinase downstream of KIT
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ZBTB16-mediated control on KIT expression in CD34(+) cells and early erythropoiesis
  • RAB27B negatively regulates the cell surface expression of KIT via secretion of KITLG and ligation of KITLG leads to the endolysosomal degradation system of KIT
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PBT1 , FMST , FGIST
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in mastocytosis, with an associated hematologic disorder, and in sporadic and familial stomach, intestines stromal tumors
    tumoral     --over  
    in gastrointestinal tumors
    tumoral somatic mutation      
    in acute myeloid leukemia
    tumoral somatic mutation      
    in synovial sarcoma
    tumoral     --over  
    of KIT and KITLG expression in primary Merkel cell carcinoma and in metastases suggests an early event in Merkel cell transformation
    tumoral somatic mutation      
    in mucosal melanomas irrespective of the location of the primary tumour
    tumoral   amplification    
    coamplification of PDGFRA or KDR with KIT may be clinically useful novel molecular markers in medulloblastomas and primitive neuroectodermal tumors
    tumoral     --over  
    of KIT, TP53, and MKI67 reflects tumor grade and predicts survival in neuroendocrine carcinomas, but fail as prognostic markers in the subset of small cell lung cancer patients
    constitutional germinal mutation     gain of function
    activating mutations found in the majority of patients with systemic mastocytosis
    tumoral     --over  
    in the human meningiomas
    Susceptibility to infertility in males
    Variant & Polymorphism other significant association of the rs3819392 polymorphism, which is located within the KIT gene, with idiopathic male infertility
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerskin 
    therapeutic attempts with tyrosine kinase inhibitors blocking KIT in mucosal melanomas
    cancerreproductivebreast
    KIT signalling network has potential as a target for therapy and/or prevention in BRCA1-associated breast cancer
    ANIMAL & CELL MODELS