InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KITLG

Summary

InnateDB Protein

IDBP-50402.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KITLG

Protein Name

KIT ligand

Synonyms

FPH2; Kitl; KL-1; MGF; SCF; SF; SHEP7;

Species

Homo sapiens

Ensembl Protein

ENSP00000054216

InnateDB Gene

IDBG-50398 (KITLG)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Isoform 1: Cell membrane; Single-pass type I membrane protein.Isoform 2: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.Soluble KIT ligand: Secreted.

Disease Associations

Familial progressive hyperpigmentation (FPH) [MIM:145250]: A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. {ECO:0000269PubMed:19375057}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	8 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005173	stem cell factor receptor binding
GO:0005515	protein binding
GO:0008083	growth factor activity

Biological Process

GO:0007155	cell adhesion
GO:0007165	signal transduction
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0008283	cell proliferation
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0008584	male gonad development
GO:0035162	embryonic hemopoiesis
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0045740	positive regulation of DNA replication
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling