Kitlg

Developmental stage

Acts in the early stages of hematopoiesis.

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.

Involvement in disease

Hyperpigmentation with or without hypopigmentation, familial progressive

FPHH

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Deafness, congenital, unilateral or asymmetric

DCUA

An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

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.

A soluble form exists as a cleavage product of the extracellular domain.

Sequence similarities

Belongs to the SCF family.

Cellular localization

• Isoform 1
• Cell membrane
• Single-pass type I membrane protein
• Isoform 2
• Cytoplasm
• Cytoplasm
• Cytoskeleton
• Cell membrane
• Single-pass type I membrane protein
• Cell projection
• Lamellipodium
• Cell projection
• Filopodium
• Soluble KIT ligand
• Secreted

Alternative names

• Kit ligand
• Mast cell growth factor
• Stem cell factor
• c-Kit ligand
• MGF
• SCF
• SCF
• MGF
• KITLG

Database links

• entrezGene:4254
• omim:184745
• swissprot:P21583

Target type

Proteins

Primary research area

Oncology

Molecular weight

30899Da