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Aliases for KITLG Gene

Aliases for KITLG Gene

  • KIT Ligand 2 3 5
  • 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
  • SHEP7 3
  • DCUA 3
  • 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 with or without hypopigmentation and familial progressive hyperpigmentation. Among its related pathways are Signaling by GPCR and Immune System. 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

Chromosome:
12
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

Genes around KITLG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KITLG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 90, Asn 118, Asn 145, Ser 167, Thr 168, Thr 180, and Asn 195
  • Modification sites at PhosphoSitePlus

Other Protein References for KITLG Gene

Antibody Products

  • R&D Systems Antibodies for KITLG (SCF/c-kit Ligand)
  • Cell Signaling Technology (CST) Antibodies for KITLG (SCF)

Protein Products

No data available for DME Specific Peptides for KITLG Gene

Domains & Families 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 :
  • Belongs to the SCF family.
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.

LifeMap Function Summary for KITLG Gene

During embryonic development, KITLG as signaling molecule is secreted from the following cells
KITLG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
genes like me logo Genes that share phenotypes with KITLG: view

Human Phenotype Ontology for KITLG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KITLG Gene

MGI Knock Outs for KITLG:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 4
cytosol 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for KITLG Gene

Pathways & Interactions for KITLG Gene

SuperPathways for KITLG Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K events in ERBB4 signaling
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with KITLG: view

SIGNOR curated interactions for KITLG Gene

Activates:

Gene Ontology (GO) - Biological Process for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0001541 ovarian follicle development IEA --
GO:0001755 neural crest cell migration IEA --
GO:0002687 positive regulation of leukocyte migration IEA --
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with KITLG: view

Drugs & Compounds for KITLG Gene

(60) Drugs for KITLG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(58) Additional Compounds for KITLG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KITLG: view

Transcripts for KITLG Gene

Unigene Clusters for KITLG Gene

KIT ligand:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for KITLG Gene

This gene is overexpressed in Esophagus - Muscularis (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KITLG: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 85 (a)
OneToOne
KITLG 35
  • 90.6 (n)
  • 84.98 (a)
dog
(Canis familiaris)
Mammalia KITLG 35
  • 91.33 (n)
  • 85.71 (a)
KITLG 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kitl 16
Kitl 36
  • 83 (a)
OneToOne
Kitl 35
  • 89.13 (n)
  • 82.78 (a)
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 36
  • 49 (a)
OneToOne
KITLG 35
  • 67.16 (n)
  • 53.48 (a)
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
rs3741457 - 88,532,473(+) GAGGG(C/T)TATCA reference, missense
rs12721563 - 88,507,047(-) TGCTT(A/G/T)TGGAG reference, missense
VAR_063237 Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH)
rs41283112 - 88,507,114(+) GGAGT(A/C)TCCAG reference, missense
rs906637 -- 88,549,076(+) AGAGA(A/G)AAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv483111 CNV Loss 15286789

Variation tolerance for KITLG Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KITLG Gene

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

Disorders for KITLG Gene

MalaCards: The human disease database

(55) MalaCards diseases for KITLG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperpigmentation with or without hypopigmentation
  • fphh
familial progressive hyperpigmentation
  • melanosis diffusa congenita
familial progressive hyper- and hypopigmentation
  • fphh
non-seminomatous germ cell tumor of testis
  • non-dysgerminomatous germ cell tumor of testis
mast-cell leukemia
  • leukemia mast cell
- elite association - COSMIC cancer census association via MalaCards
Search KITLG in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for KITLG

Genetic Association Database (GAD)
KITLG
Human Genome Epidemiology (HuGE) Navigator
KITLG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KITLG
genes like me logo Genes that share disorders with KITLG: view

No data available for Genatlas for KITLG Gene

Publications for KITLG Gene

  1. Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. (PMID: 19375057) Wang Z.-Q. … Kong X. (Am. J. Hum. Genet. 2009) 2 3 4 67
  2. The human Cdc34 carboxyl terminus contains a non-covalent ubiquitin binding activity that contributes to SCF-dependent ubiquitination. (PMID: 20353940) Choi Y.S. … Cheong C. (J. Biol. Chem. 2010) 3 23
  3. Effect of a six-hour marathon ultra-race on the levels of IL-6, LIF, and SCF. (PMID: 20396801) Donnikov A.E. … Tonevitsky A.G. (Bull. Exp. Biol. Med. 2009) 3 23
  4. Human stem cell factor (SCF) is a heparin-binding cytokine. (PMID: 19074504) Kishimoto S. … Ishihara M. (J. Biochem. 2009) 3 23
  5. The key role of stem cell factor/KIT signaling in the proliferation of blast cells from Down syndrome-related leukemia. (PMID: 18830255) Toki T. … Ito E. (Leukemia 2009) 3 23

Products for KITLG Gene

Sources for KITLG Gene

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