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Aliases for KITLG Gene

Aliases for KITLG Gene

  • KIT Ligand 2 3
  • Mast Cell Growth Factor 2 3 4
  • Stem Cell Factor 2 3 4
  • Familial Progressive Hyperpigmentation 2 2 3
  • Steel Factor 2 3
  • C-Kit Ligand 3 4
  • MGF 3 4
  • SCF 3 4
  • Homolog Of) 6
  • SHEP7 3
  • Steel 6
  • Mouse 6
  • FPH2 3
  • FPHH 3
  • KL-1 3
  • Kitl 3
  • SF 3

External Ids for KITLG Gene

Previous HGNC Symbols for KITLG Gene

  • MGF

Previous GeneCards Identifiers for KITLG Gene

  • GC12M088158
  • GC12M089338
  • GC12M088823
  • GC12M087393
  • GC12M085953

Summaries for KITLG Gene

Entrez Gene Summary for KITLG Gene

  • 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]

GeneCards Summary for KITLG Gene

KITLG (KIT Ligand) is a Protein Coding gene. Diseases associated with KITLG include hyperpigmentation, familial progressive, 2 and testicular non seminomatous germ cell tumor. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include cytokine activity and stem cell factor receptor binding.

UniProtKB/Swiss-Prot for KITLG Gene

  • Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably interleukins

Gene Wiki entry for KITLG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KITLG Gene

Genomics for KITLG Gene

Regulatory Elements for KITLG Gene

Genomic Location for KITLG Gene

Start:
88,492,793 bp from pter
End:
88,580,851 bp from pter
Size:
88,059 bases
Orientation:
Minus strand

Genomic View for KITLG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KITLG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KITLG Gene

Proteins for KITLG Gene

  • Protein details for KITLG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21583-SCF_HUMAN
    Recommended name:
    Kit ligand
    Protein Accession:
    P21583
    Secondary Accessions:
    • A0AV09
    • A8K2Q4
    • B7ZLM4
    • Q16487
    • Q68DZ2
    • Q7M4N8
    • Q9UQK7

    Protein attributes for KITLG Gene

    Size:
    273 amino acids
    Molecular mass:
    30899 Da
    Quaternary structure:
    • Homodimer, non-covalently linked (Probable). Heterotetramer with KIT, binding two KIT molecules; thereby mediates KIT dimerization and subsequent activation by autophosphorylation.

    Three dimensional structures from OCA and Proteopedia for KITLG Gene

    Alternative splice isoforms for KITLG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KITLG Gene

Proteomics data for KITLG Gene at MOPED

Post-translational modifications for KITLG Gene

  • A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain.
  • A soluble form exists as a cleavage product of the extracellular domain.
  • Found in two differentially glycosylated forms, LMW-SCF and HMW-SCF. LMW-SCF is fully N-glycosylated at Asn-145, partially N-glycosylated at Asn-90, O-glycosylated at Ser-167, Thr-168 and Thr-180, and not glycosylated at Asn-97 or Asn-118. HMW-SCF is N-glycosylated at Asn-118, Asn-90 and Asn-145, O-glycosylated at Ser-167, Thr-168 and Thr-180, and not glycosylated at Asn-97.
  • Glycosylation at Asn90, Asn118, Asn145, Ser167, Thr168, Thr180, and Asn195
  • Modification sites at PhosphoSitePlus

Other Protein References for KITLG Gene

No data available for DME Specific Peptides for KITLG Gene

Domains for KITLG Gene

Protein Domains for KITLG Gene

Suggested Antigen Peptide Sequences for KITLG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21583

UniProtKB/Swiss-Prot:

SCF_HUMAN :
  • P21583
Family:
  • Belongs to the SCF family.
genes like me logo Genes that share domains with KITLG: view

No data available for Gene Families for KITLG Gene

Function for KITLG Gene

Molecular function for KITLG Gene

UniProtKB/Swiss-Prot Function: Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably interleukins

Gene Ontology (GO) - Molecular Function for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA --
GO:0005173 stem cell factor receptor binding IEA --
GO:0005515 protein binding IPI 17662946
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with KITLG: view
genes like me logo Genes that share phenotypes with KITLG: view

Animal Models for KITLG Gene

MGI Knock Outs for KITLG:

miRNA for KITLG Gene

miRTarBase miRNAs that target KITLG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KITLG Gene

Localization for KITLG Gene

Subcellular locations from UniProtKB/Swiss-Prot for KITLG Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton.
Soluble KIT ligand: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KITLG Gene COMPARTMENTS Subcellular localization image for KITLG gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KITLG: view

Pathways for KITLG Gene

SuperPathways for KITLG Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 PI-3K cascade
3 Signaling by FGFR
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with KITLG: view

Gene Ontology (GO) - Biological Process for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IEA --
GO:0002763 positive regulation of myeloid leukocyte differentiation IEA --
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction TAS 2208279
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with KITLG: view

Compounds for KITLG Gene

(118) Novoseek inferred chemical compound relationships for KITLG Gene

Compound -log(P) Hits PubMed IDs
methylcellulose 81.5 46
tyrosine 71 129
imatinib 69.2 37
pixy321 66.6 11
filgrastim 63.8 51
genes like me logo Genes that share compounds with KITLG: view

Transcripts for KITLG Gene

Unigene Clusters for KITLG Gene

KIT ligand:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KITLG Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1:
SP2: - -
SP3: - - - - - - - - -
SP4: -
SP5: -

Relevant External Links for KITLG Gene

GeneLoc Exon Structure for
KITLG
ECgene alternative splicing isoforms for
KITLG

Expression for KITLG Gene

mRNA expression in normal human tissues for KITLG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KITLG Gene

This gene is overexpressed in Esophagus - Muscularis (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KITLG Gene

SOURCE GeneReport for Unigene cluster for KITLG Gene Hs.1048

genes like me logo Genes that share expressions with KITLG: view

No data available for mRNA Expression by UniProt/SwissProt for KITLG Gene

Orthologs for KITLG Gene

This gene was present in the common ancestor of chordates.

Orthologs for KITLG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KITLG 35
  • 99.88 (n)
  • 100 (a)
KITLG 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KITLG 35
  • 90.6 (n)
  • 84.98 (a)
KITLG 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KITLG 35
  • 91.33 (n)
  • 85.71 (a)
KITLG 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kitl 35
  • 89.13 (n)
  • 82.78 (a)
Kitl 16
Kitl 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KITLG 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KITLG 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kitlg 35
  • 89.5 (n)
  • 82.42 (a)
chicken
(Gallus gallus)
Aves KITLG 35
  • 67.16 (n)
  • 53.48 (a)
KITLG 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KITLG 36
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia kitlg-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kitlg 35
  • 49.48 (n)
  • 35.83 (a)
Str.10824 35
Species with no ortholog for KITLG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KITLG Gene

ENSEMBL:
Gene Tree for KITLG (if available)
TreeFam:
Gene Tree for KITLG (if available)

Paralogs for KITLG Gene

No data available for Paralogs for KITLG Gene

Variants for KITLG Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KITLG Gene

P21583-SCF_HUMAN
A non-coding SNP (dbSNP:rs12821256) has been shown to be associated with classic blond hair color in Europeans. This SNP is located 350 kb upstream from KITLG, in an enhancer specifically active in the hair follicle environment. It alters a LEF1 binding site, reducing LEF1 responsiveness in cultured keratinocytes. This SNP is not associated with eye pigmentation. It is most prevalent in Northern Europe (PubMed:24880339).

Sequence variations from dbSNP and Humsavar for KITLG Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs12344 -- 88,493,186(-) TACTC(A/G)CTAAA utr-variant-3-prime
rs869408 -- 88,580,978(-) TTTTT(A/T)AAAAA upstream-variant-2KB
rs906637 -- 88,549,076(+) AGAGA(A/G)AAAAG intron-variant
rs906638 -- 88,553,659(-) TGTTG(C/T)GGGGG intron-variant
rs906639 -- 88,497,676(+) ATTGA(C/T)GAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KITLG Gene

Variant ID Type Subtype PubMed ID
nsv483111 CNV Loss 15286789

Relevant External Links for KITLG Gene

HapMap Linkage Disequilibrium report
KITLG
Human Gene Mutation Database (HGMD)
KITLG

Disorders for KITLG Gene

(2) OMIM Diseases for KITLG Gene (184745)

UniProtKB/Swiss-Prot

SCF_HUMAN
  • Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH) [MIM:145250]: A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. {ECO:0000269 PubMed:19375057}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for KITLG Gene

(92) Novoseek inferred disease relationships for KITLG Gene

Disease -log(P) Hits PubMed IDs
mastocytosis 79.3 30
leukemia mast cell 72.4 2
diamond-blackfan anemia 69 14
mastocytosis systemic 66.8 6
leukemia 65.6 75

Relevant External Links for KITLG

Genetic Association Database (GAD)
KITLG
Human Genome Epidemiology (HuGE) Navigator
KITLG
genes like me logo Genes that share disorders with KITLG: view

Publications for KITLG Gene

  1. Parathyroid hormone-regulated production of stem cell factor in human osteoblasts and osteoblast-like cells. (PMID: 10049787) Blair H.C. … Dong S.S. (Biochem. Biophys. Res. Commun. 1999) 3 4 23
  2. Structure of the active core of human stem cell factor and analysis of binding to its receptor kit. (PMID: 10880433) Jiang X. … Hendrickson W.A. (EMBO J. 2000) 3 4 23
  3. Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor. (PMID: 17662946) Yuzawa S. … Schlessinger J. (Cell 2007) 3 4 23
  4. Association study between keratinocyte-derived growth factor gene polymorphisms and susceptibility to vitiligo vulgaris in a Taiwanese population: potential involvement of stem cell factor. (PMID: 19416273) Lan C.C. … Yu H.S. (Br. J. Dermatol. 2009) 3 23 48
  5. Primary structure and functional expression of rat and human stem cell factor DNAs. (PMID: 2208279) Martin F.H. … Zsebo K.M. (Cell 1990) 2 3 4

Products for KITLG Gene

Sources for KITLG Gene

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