KITLG
entrez
4254
canonical
uniprot
P21583
canonical
ensembl
ENSG00000049130
resolver
ensp
ENSP00000054216
resolver
ensp
ENSP00000495951
resolver
genesymbol
KITLG
resolver
genesymbol_syn
MGF
resolver
genesymbol_syn
SCF
resolver
hgnc
HGNC:6343
resolver
uniprot
A0AV09
resolver
uniprot
A8K2Q4
resolver
uniprot
B7ZLM4
resolver
uniprot
Q16487
resolver
uniprot
Q68DZ2
resolver
uniprot
Q7M4N8
resolver
uniprot
Q9UQK7
resolver
uniprot_entry
SCF_HUMAN
resolver
uniprot_sec
A0AV09
resolver
uniprot_sec
A8K2Q4
resolver
uniprot_sec
B7ZLM4
resolver
uniprot_sec
Q16487
resolver
uniprot_sec
Q68DZ2
resolver
uniprot_sec
Q7M4N8
resolver
uniprot_sec
Q9UQK7
resolver
amino_acid_sequence
MKKTQTWILTCIYLQLLLFNPLVKTEGICRNRVTNNVKDVTKLVANLPKDYMITLKYVPGMDVLPSHCWISEMVVQLSDSLTDLLDKFSNISEGLSNYSIIDKLVNIVDDLVECVKENSSKDLKKSFKSPEPRLFTPEEFFRIFNRSIDAFKDFVVASETSDCVVSSTLSPEKDSRVSVTKPFMLPPVAASSLRNDSSSSNRKAKNPPGDSSLHWAAMALPALFSLIIGFAFGALYWKKRQPSLTRAVENIQINEEDNEISMLQEKEREFQEV
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: Deafness, congenital, unilateral or asymmetric (DCUA) [MIM:616697]: 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. {ECO:0000269|PubMed:26522471}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Waardenburg syndrome 2F (WS2F) [MIM:619947]: A form of Waardenburg syndrome, an auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. WS2F is an autosomal recessive form with variable expressivity, characterized by congenital or neonatal-onset sensorineural hearing loss. {ECO:0000269|PubMed:26522471, ECO:0000269|PubMed:28504826, ECO:0000269|PubMed:35543077}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
30899
uniprot
proteins
post_translational_modification
PTM: A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain. {ECO:0000269|PubMed:1381905}.; PTM: 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. {ECO:0000269|PubMed:1381905}.; PTM: A soluble form exists as a cleavage product of the extracellular domain. {ECO:0000269|PubMed:1381905}.
uniprot
proteins
protein_family
SCF family
uniprot
proteins
pubmed
10049787
uniprot
proteins
pubmed
10582791
uniprot
proteins
pubmed
10880433
uniprot
proteins
pubmed
10884405
uniprot
proteins
pubmed
1379846
uniprot
proteins
pubmed
1381905
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15526160
uniprot
proteins
pubmed
15625120
uniprot
proteins
pubmed
1724381
uniprot
proteins
pubmed
17662946
uniprot
proteins
pubmed
17952075
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19375057
uniprot
proteins
pubmed
2208279
uniprot
proteins
pubmed
24880339
uniprot
proteins
pubmed
26522471
uniprot
proteins
pubmed
28504826
uniprot
proteins
pubmed
35543077
uniprot
proteins
sequence_length
273
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:26522471}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:26522471}; Single-pass type I membrane protein {ECO:0000250}. Cell projection, lamellipodium {ECO:0000269|PubMed:26522471}. Cell projection, filopodium {ECO:0000269|PubMed:26522471}.; SUBCELLULAR LOCATION: [Soluble KIT ligand]: Secreted.
uniprot
proteins
transmembrane_region
TRANSMEM 215..237; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins