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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
    Physical map
    LOC390348 12 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC387871 12 LOC387871 NTT73 12q21.3-q21.4 LOC387871 LOC390349 12 similar to Small nuclear ribonucleoprotein Sm D2 (snRNP core protein D2) (Sm-D2) LOC144448 12q21.31 similar to CD63 antigen (AD1 antigen) FLJ12303 12q21 hypothetical protein FLJ12303 LOC283393 12q21.31 hypothetical LOC283393 CART1 12q21.3-q22 cartilage paired-class homeoprotein 1 PAMCI 12q21.32 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor NTS 12q21 neurotensin HGNT-IV-H 12q21 UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog HCP30 12q21.33 cytochrome c, somatic pseudogene LOC160420 12q21.33 similar to Makorin 1 FLJ35821 12q21.33 hypothetical protein FLJ35821 DKFZp434N2030 12q21.33 hypothetical protein DKFZp434N2030 KIAA0373 12q21-q22 hypothetical protein DKFZp434N2030 FLJ13615 12q21.33 hypothetical protein FLJ13615 FLJ90492 12q21.33 hypothetical protein FLJ90492 KITLG 12q22 KIT ligand MRPS6P4 12q21 mitochondrial ribosomal protein S6 pseudogene 4 DUSP6 12q21 dual specificity phosphatase 6 TUWD12 12q21.33 TUWD12 CENPC2 12q21.2-q21.33 centromere protein C2, 140kDa GALNT4 12q21.3-q22 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) ATP2B1 12q21-q23 ATPase, Ca++ transporting, plasma membrane 1 MRPL2P1 12q21.33 ATPase, Ca++ transporting, plasma membrane 1 FLJ25378 12q22 hypothetical protein FLJ25378 MGC26598 12q22 hypothetical protein MGC26598 DSPG3 12q21.3-q22 dermatan sulfate proteoglycan 3 KERA 12q22 keratocan LUM 12q21.3-q22 lumican DCN 12q13.2 decorin BTG1 12q22 B-cell translocation gene 1, anti-proliferative LOC387872 12 hypothetical gene supported by BC044741 LOC390351 12 similar to 60S ribosomal protein L21 LOC283388 12q22 similar to guanine nucleotide exchange factor (1B384) EEA1 12q21.31 early endosome antigen 1, 162kD LOC341444 12q22 similar to alpha NAC/1.9.2. protein LOC387873 12 LOC387873 NUDT4 12q21 nudix (nucleoside diphosphate linked moiety X)-type motif 4 UBE2N 12q21.33 ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast) MRPL42 12q22 mitochondrial ribosomal protein L42 SOCS2 12q21.3-q23 suppressor of cytokine signaling 2 LOC144483 12q22 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) CRADD 12q21.33-q23.1 CASP2 and RIPK1 domain containing adaptor with death domain
    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