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FLASH GENE
Symbol KITLG contributors: mct/npt - updated : 07-01-2014
HGNC name KIT ligand
HGNC id 6343
Corresponding disease
FPH2 familial progressive hyperpigmentation 2
Location 12q21.32      Physical location : 88.886.570 - 88.974.250
Synonym name
  • mast cell growth factor
  • steel factor
  • stem cell factor precursor
    • Synonym symbol(s) SCF, MGF, KL-1, Kitl, SF, DKFZp686F2250, SHEP7
    DNA
    TYPE functioning gene
    STRUCTURE 87.67 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 5351 25 245 - Wang (2009)
  • lacking exon 6
  • primarily membrane-bound form
  • KITLGm
    • 10 - 5435 28 273 - Wang (2009)
  • membrane-proximal extracellularly located protease-cleavage site
  • KITLGs - variant b
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Steel
    Homologene
    FAMILY
  • SCF family
    • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • stem cell factor (hematopoietic growth factor, ligand for kit
  • IL3 and KITLG have synergistic effects with EPO on the proliferation, differentiation and apoptosis of erythroid progenitors
  • binds to and activates KIT and plays a crucial role in the development and maintenance of the melanocyte lineage in adult skin (Wang 2009)
  • KITLG and CSF3 promote neuronal differentiation and inhibit astroglial differentiation at the early stage of differentiation
  • essential role of membrane-bound KITLG in human myeloid development
  • is a key niche component that maintains haematopoietic stem cells (HSCs)
  • membrane-bound KITLG regulates melanocyte adhesion and survival, providing physical interaction with an intraepithelial niche
  • KIT/KITLG system may play a role in corneal wound healing through epithelial cell attachment
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding KIT
  • KITLG and TLR4 ligand cooperated to induce phosphorylation of GSK3B at Tyr216 by simultaneous activation of ERK and MAPK14 pathways
  • acts autonomously to permit the polarized response of primordial germ cells (PGCs) to KITLG
  • WNT5A potentiates PGC chemotaxis toward secreted KITLG by redistribution of ROR2 within the cell
  • 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
  • RIN3 also functioned as an inhibitor of mast cell migration toward KITLG
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FPH2 , HPDD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    of KIT and KITLG expression in primary Merkel cell carcinoma and in metastases suggests an early event in Merkel cell transformation (Krasagakis 2009)
    Susceptibility
  • to infertility in males
  • to testicular germ cell tumors (TGCT)
    • Variant & Polymorphism SNP , other
  • associated to hair color
  • rs10506957 polymorphism within the KITLG gene only in the infertile males (Galan 2006)
  • rs3782179 and rs4474514 increasing the risk of testicular germ cell tumors (TGCT) (Kanetsky 2009)
    • Candidate gene for hyperkeratosis pilaris/ulerythema ophryogenes seen in del 12q21.1-q22
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • many mutant alleles of Kitlg are lethal in homozygous mice and produce a variable level of coat-color dilution in heterozygous mice (Wang 2009)
  • in Scf(gfp) knock-in mice, Scf was primarily expressed by perivascular cells throughout the bone marrow