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    KITLG KIT ligand [ Homo sapiens ]

    Gene ID: 4254, updated on 19-May-2012
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    Summary

    Official Symbol
    KITLGprovided by HGNC
    Official Full Name
    KIT ligandprovided by HGNC
    Primary source
    HGNC:6343
    See related
    Ensembl:ENSG00000049130; HPRD:01698; MIM:184745; Vega:OTTHUMG00000169888
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SF; MGF; SCF; FPH2; KL-1; Kitl; SHEP7; kit-ligand; DKFZp686F2250
    Summary
    This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    12q22
    Sequence :
    Chromosome: 12; NC_000012.11 (88886570..88974250, complement)
    See KITLG in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 38A pseudogene Neighboring gene centrosomal protein 290kDa Neighboring gene transmembrane and tetratricopeptide repeat containing 3 Neighboring gene microtubule-associated protein 1 light chain 3 beta pseudogene Neighboring gene uncharacterized LOC728084

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Rab27b regulates c-kit expression by controlling the secretion of stem cell factor. Tanaka C, et al. Biochem Biophys Res Commun, 2012 Mar 9. PMID 22349512.
    2. Membrane-bound human SCF/KL promotes in vivo human hematopoietic engraftment and myeloid differentiation. Takagi S, et al. Blood, 2012 Mar 22. PMID 22279057.
    3. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. Dalgaard MD, et al. J Med Genet, 2012 Jan. PMID 22140272.
    4. Serum hematopoietic growth factors as diagnostic and prognostic markers of acute renal allograft rejection: a potential role for serum stem cell factor. Xu X, et al. Cytokine, 2011 Dec. PMID 22004924.
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.

    See all (155) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. This novel in vivo humanized mouse model demonstrates the essential role of membrane-bound hSCF in human myeloid development
      Title: Membrane-bound human SCF/KL promotes in vivo human hematopoietic engraftment and myeloid differentiation.
    2. These results suggest that Rab27b negatively regulates the cell surface expression of c-kit via secretion of SCF and that ligation of SCF leads to the endolysosomal degradation system of c-kit.
      Title: Rab27b regulates c-kit expression by controlling the secretion of stem cell factor.
    3. Single-nucleotide polymorphisms in the KITLG gene showed significant associations with testicular cancer
      Title: A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation.
    4. This study evaluated the levels of c-kit mRNA in goat follicles and the effects of kit ligand (KL) on the in vitro development of cultured preantral follicles.
      Title: Presence of c-kit mRNA in goat ovaries and improvement of in vitro preantral follicle survival and development with kit ligand.
    5. A direct correlation was observed between SCF levels and the occurrence of acute renal allograft rejection.
      Title: Serum hematopoietic growth factors as diagnostic and prognostic markers of acute renal allograft rejection: a potential role for serum stem cell factor.
    6. SCF directly enhances the neovascularization activity of endothelial progenitor cell (EPC).
      Title: Direct and differential effects of stem cell factor on the neovascularization activity of endothelial progenitor cells.
    7. cross-talk of signalling pathways associated with HIF-1 activation
      Title: Effects of stem cell factor on hypoxia-inducible factor 1 alpha accumulation in human acute myeloid leukaemia and LAD2 mast cells.
    8. variants in or near BAK1, DMRT1, TERT-CLPTM1L, and KITLG predispose to familial and bilateral TGCT.
      Title: Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour.
    9. KITLG is an important modulator of skin pigmentation.
      Title: KITLG mutations cause familial progressive hyper- and hypopigmentation.
    10. The levels of EPO, SCF and GM-CSF in chronic aplastic anemia patients were obviously lower than those in the healthy individuals.
      Title: [Expression of hematopoietic cytokines EPO, SCF and GM-CSF in bone marrow cells of patients with chronic aplastic anemia].
    Submit: New GeneRIF Correction See all (109)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    [Skin/hair/eye pigmentation 7, blond/brown hair]

    A genome-wide association study of testicular germ cell tumor.

    Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.

    Genetic determinants of hair, eye and skin pigmentation in Europeans.

    Hyperpigmentation, familial progressive, 2

    Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P21583 Q9Y240 CLEC11A    HPRD  PubMed  
    P21583 P23946 CMA1    HPRD  PubMed  
    P21583 P04141 CSF2    HPRD  PubMed  
    P21583 P19235 EPOR    HPRD  PubMed  
    P21583 P49771 FLT3LG    HPRD  PubMed  
    P21583 P10721 KIT    HPRD  PubMed  
    P21583 P21583 KITLG    HPRD  PubMed  
    P21583 O00329 PIK3CD    HPRD  PubMed  
    P21583 Ubiquitin conjugating enzyme E2 variant 1 UBE2V1    HPRD  PubMed  
    BioGRID:110410 BioGRID:110015 KIT    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110410 BioGRID:110410 KITLG    BioGRID  PubMed Co-crystal Structure; Co-purification 
    BioGRID:110410 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      C-MYB transcription factor network, organism-specific biosystem
      C-MYB transcription factor network
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Kit Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Kit Receptor Signaling Pathway, organism-specific biosystemKit is a receptor protein tyrosine kinase, which is a receptor for stem cell factor or kit ligand. Signaling through Kit is important for formation of red cells, lymphocytes, mast cells and platelets...
    • Melanogenesis, organism-specific biosystem (from KEGG)
      Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
    • Melanogenesis, conserved biosystem (from KEGG)
      Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Regulation of KIT signaling, organism-specific biosystem (from REACTOME)
      Regulation of KIT signaling, organism-specific biosystemSCF induced proliferation is negatively regulated by various proteins including SHP1, PKC, CBL, SOCS1, SOCS6 and LNK.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
      Signaling events mediated by Stem cell factor receptor (c-Kit)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    stem cell factor receptor binding NAS
    Non-traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    embryonic hemopoiesis IDA
    Inferred from Direct Assay
    more info
    		  
    germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    hemopoiesis NAS
    Non-traceable Author Statement
    more info
    		  
    male gonad development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of mast cell apoptosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of MAP kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of mast cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of myeloid leukocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    kit ligand
    Names
    kit ligand
    c-Kit ligand
    steel factor
    stem cell factor
    mast cell growth factor
    familial progressive hyperpigmentation 2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012098.1 RefSeqGene

      Range
      4989..92669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000899.4 → NP_000890.1  kit ligand isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) encodes the longer isoform (b) which contains the primary proteolytic-cleavage site; as a result, isoform b is largely a soluble product.
      Source sequence(s)
      AC024941, AK025245, BC126166, DC320486
      Consensus CDS
      CCDS31868.1
      UniProtKB/Swiss-Prot
      P21583
      Related
      ENSP00000228280, OTTHUMP00000242389, ENST00000228280, OTTHUMT00000406424
      Conserved Domains (1) summary
      pfam02404
      Location:1 – 273
      Blast Score: 1220
      SCF; Stem cell factor

    2. NM_003994.5 → NP_003985.2  kit ligand isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) lacks an alternate in-frame exon, compared to variant b. Isoform a lacks the primary proteolytic-cleavage site; as a result, the protein encoded by isoform a is largely a membrane bound product.
      Source sequence(s)
      AC024941, AK025245, BC143899, DC320486
      Consensus CDS
      CCDS31867.1
      UniProtKB/Swiss-Prot
      P21583
      Related
      ENSP00000054216, OTTHUMP00000242390, ENST00000347404, OTTHUMT00000406425
      Conserved Domains (1) summary
      pfam02404
      Location:1 – 245
      Blast Score: 1102
      SCF; Stem cell factor

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      88886570..88974250, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      85953228..86040884, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC024941.30 (132317..136050) None
    genomic CH471054.1 EAW97416.1
      EAW97417.1
      EAW97418.1
      EAW97419.1
    mRNA AF119835.1 AAD22048.1
    mRNA AF400436.1 AAK92485.1
    mRNA AF400437.1 AAK92486.1
    mRNA AK025245.1 None
    mRNA AK055903.1 None
    mRNA AK290319.1 BAF83008.1
    mRNA AK293002.1 BAF85691.1
    mRNA BC069733.1 AAH69733.1
    mRNA BC069783.1 AAH69783.1
    mRNA BC069797.1 AAH69797.1
    mRNA BC074725.2 AAH74725.1
    mRNA BC126166.1 AAI26167.1
    mRNA BC143899.1 AAI43900.1
    mRNA BX474960.1 None
    mRNA CR749222.1 CAH18078.1
    mRNA DC320486.1 None
    mRNA M59964.1 AAA85450.1
    mRNA S42571.1 AAB22846.2
    mRNA S45995.1 AAB23573.1
    other-genetic HQ447471.1 ADQ31957.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P21583.1 GenPept UniProtKB/Swiss-Prot:P21583
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
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