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KITLG KIT ligand [ Homo sapiens (human) ]

Gene ID: 4254, updated on 26-Nov-2017
Official Symbol
KITLGprovided by HGNC
Official Full Name
KIT ligandprovided by HGNC
Primary source
HGNC:HGNC:6343
See related
Ensembl:ENSG00000049130 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; SLF; DCUA; FPH2; FPHH; KL-1; Kitl; SHEP7; DFNA69
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]
Expression
Broad expression in lung (RPKM 24.5), colon (RPKM 14.0) and 22 other tissues See more
Orthologs
Location:
12q21.32
Exon count:
10
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (88492793..88580473, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (88886570..88974250, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane and tetratricopeptide repeat containing 3 Neighboring gene suppressyn-like Neighboring gene uncharacterized LOC105369885 Neighboring gene RNA, U1 small nuclear 117, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Deafness, autosomal dominant 69
MedGen: C4225241 OMIM: 616697 GeneReviews: Not available
Compare labs
Familial progressive hyperpigmentation with or without hypopigmentation
MedGen: C1840392 OMIM: 145250 GeneReviews: Not available
Compare labs
Skin/hair/eye pigmentation, variation in, 7
MedGen: C2674081 OMIM: 611664 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of testicular germ cell tumor.
NHGRI GWA Catalog
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
NHGRI GWA Catalog
Genetic determinants of hair, eye and skin pigmentation in Europeans.
NHGRI GWA Catalog
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
NHGRI GWA Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
NHGRI GWA Catalog
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
NHGRI GWA Catalog
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  • DAP12 interactions, organism-specific biosystem (from REACTOME)
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  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
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  • Disease, organism-specific biosystem (from REACTOME)
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    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Downstream signal transduction, organism-specific biosystem (from REACTOME)
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    Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
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    GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
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  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
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  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
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  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
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    Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
  • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
  • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
    Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
  • Kit receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Kit receptor signaling pathway, organism-specific biosystemKit is a cytokine receptor that belongs to the type III receptor tyrosine kinase family. It is structurally similar to platelet-derived growth factor recpetors (PDGFRs), colony stimulating factor-1 r...
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
    MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
  • 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)
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  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
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  • Negative regulation of the PI3K/AKT network, organism-specific biosystem (from REACTOME)
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  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
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  • Pathways in cancer, organism-specific biosystem (from KEGG)
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    Pathways in cancer
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  • RET signaling, organism-specific biosystem (from REACTOME)
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  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
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  • Ras signaling pathway, organism-specific biosystem (from KEGG)
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  • Regulation of KIT signaling, organism-specific biosystem (from REACTOME)
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  • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
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  • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
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  • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
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  • Signal Transduction, organism-specific biosystem (from REACTOME)
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  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
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  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
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  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
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  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
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  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
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  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
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  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
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  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
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  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
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  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
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  • 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)
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
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  • Signalling to RAS, organism-specific biosystem (from REACTOME)
    Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
  • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
    VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686F2250

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
stem cell factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
ectopic germ cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
embryonic hemopoiesis IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of mast cell apoptotic process 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
 
phosphatidylinositol phosphorylation 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 hematopoietic stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of leukocyte migration 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
 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
regulation of receptor activity IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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
 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
kit ligand
Names
c-Kit ligand
familial progressive hyperpigmentation 2
mast cell growth factor
steel factor
stem cell factor
NP_000890.1
NP_003985.2

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_000899.4NP_000890.1  kit ligand isoform b precursor

    See identical proteins and their annotated locations for NP_000890.1

    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
    UniProtKB/TrEMBL
    A0A024RBC0
    Related
    ENSP00000228280.5, OTTHUMP00000242389, ENST00000228280.9, OTTHUMT00000406424
    Conserved Domains (1) summary
    pfam02404
    Location:1273
    SCF; Stem cell factor
  2. NM_003994.5NP_003985.2  kit ligand isoform a precursor

    See identical proteins and their annotated locations for NP_003985.2

    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
    UniProtKB/TrEMBL
    A0A024RBF5
    Related
    ENSP00000054216.5, OTTHUMP00000242390, ENST00000347404.9, OTTHUMT00000406425
    Conserved Domains (1) summary
    pfam02404
    Location:1245
    SCF; Stem cell factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    88492793..88580473 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    88851652..88939322 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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