NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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.
Subunit structure: Homodimer, non-covalently linked
Probable. Heterotetramer with KIT, binding two KIT molecules; thereby mediates KIT dimerization and subsequent activation by autophosphorylation.
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein Ref.9. Isoform 2: Cell membrane; Single-pass type I membrane protein
By similarity. Cytoplasm › cytoskeleton
By similarity Ref.9. Soluble KIT ligand: Secreted Ref.9.
Developmental stage: Acts in the early stages of hematopoiesis.
Post-translational modification: A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in 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. Ref.9A soluble form exists as a cleavage product of the extracellular domain.
Polymorphism: Genetic variants in KITLG define the skin/hair/eye pigmentation variation locus 7 (SHEP7) [
MIM:611664]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.
Involvement in disease: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18
Sequence similarities: Belongs to the SCF family.
Research Articles on SCF
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Product Notes
The SCF kitlg (Catalog #AAA692177) is an Active Protein produced from Insect Cells and is intended for research purposes only. The product is available for immediate purchase. The Human SCF reacts with Human and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: N-Terminal Sequence: UNDER WORK!. It is sometimes possible for the material contained within the vial of "SCF, Active Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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