Endometriosis Knowledgebase

Search Result

Gene id

4254

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KITLG Gene UCSC Ensembl

Aliases

DCUA, DFNA69, FPH2, FPHH, KL-1, Kitl, MGF, SCF, SF, SHEP7

Gene name

KIT ligand

Alternate names

kit ligand, c-Kit ligand, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor,

Gene location

12q21.32 (88580472: 88492792) Exons: 10 NC_000012.12

Gene summary(Entrez)

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]

OMIM

184745

Protein Summary

Protein general information

P21583

Name: Kit ligand (Mast cell growth factor) (MGF) (Stem cell factor) (SCF) (c Kit ligand) [Cleaved into: Soluble KIT ligand (sKITLG)]

Length: 273 Mass: 30,899

Sequence

MKKTQTWILTCIYLQLLLFNPLVKTEGICRNRVTNNVKDVTKLVANLPKDYMITLKYVPGMDVLPSHCWISEMVV
QLSDSLTDLLDKFSNISEGLSNYSIIDKLVNIVDDLVECVKENSSKDLKKSFKSPEPRLFTPEEFFRIFNRSIDA
FKDFVVASETSDCVVSSTLSPEKDSRVSVTKPFMLPPVAASSLRNDSSSSNRKAKNPPGDSSLHWAAMALPALFS
LIIGFAFGALYWKKRQPSLTRAVENIQINEEDNEISMLQEKEREFQEV

Structural information

Interpro:	IPR009079 IPR003452
Pfam:	PF02404
PDB:	1EXZ 1SCF 2E9W
PDBsum:	1EXZ 1SCF 2E9W
STRING:	ENSP00000228280;

Other Databases

GeneCards: KITLG; Malacards: KITLG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological_process
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001755	neural crest cell migrati on	IEA	biological_process
GO:0002687	positive regulation of le ukocyte migration	IEA	biological_process
GO:0002763	positive regulation of my eloid leukocyte different iation	IEA	biological_process
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005173	stem cell factor receptor binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005886	plasma membrane	NAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0007155	cell adhesion	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008283	cell proliferation	TAS	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0033026	negative regulation of ma st cell apoptotic process	IEA	biological_process
GO:0035162	embryonic hemopoiesis	IDA	biological_process
GO:0035234	ectopic germ cell program med cell death	IEA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0045636	positive regulation of me lanocyte differentiation	IEA	biological_process
GO:0045740	positive regulation of DN A replication	IDA	biological_process
GO:0046579	positive regulation of Ra s protein signal transduc tion	IEA	biological_process
GO:0046854	phosphatidylinositol phos phorylation	IEA	biological_process
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IEA	biological_process
GO:0070668	positive regulation of ma st cell proliferation	IEA	biological_process
GO:0097192	extrinsic apoptotic signa ling pathway in absence o f ligand	IEA	biological_process
GO:1902035	positive regulation of he matopoietic stem cell pro liferation	IEA	biological_process
GO:0000165	MAPK cascade	TAS	biological_process
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001755	neural crest cell migrati on	IEA	biological_process
GO:0002687	positive regulation of le ukocyte migration	IEA	biological_process
GO:0002763	positive regulation of my eloid leukocyte different iation	IEA	biological_process
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005173	stem cell factor receptor binding	IEA	molecular_function
GO:0005173	stem cell factor receptor binding	IEA	molecular_function
GO:0005173	stem cell factor receptor binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	NAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008283	cell proliferation	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0033026	negative regulation of ma st cell apoptotic process	IEA	biological_process
GO:0035162	embryonic hemopoiesis	IDA	biological_process
GO:0035234	ectopic germ cell program med cell death	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0045636	positive regulation of me lanocyte differentiation	IEA	biological_process
GO:0045740	positive regulation of DN A replication	IDA	biological_process
GO:0046579	positive regulation of Ra s protein signal transduc tion	IEA	biological_process
GO:0046854	phosphatidylinositol phos phorylation	IEA	biological_process
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IEA	biological_process
GO:0070668	positive regulation of ma st cell proliferation	IEA	biological_process
GO:0097192	extrinsic apoptotic signa ling pathway in absence o f ligand	IEA	biological_process
GO:1902035	positive regulation of he matopoietic stem cell pro liferation	IEA	biological_process
GO:0000165	MAPK cascade	TAS	biological_process
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005173	stem cell factor receptor binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005886	plasma membrane	NAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0007165	signal transduction	TAS	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0035162	embryonic hemopoiesis	IDA	biological_process
GO:0045740	positive regulation of DN A replication	IDA	biological_process
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa04640  Hematopoietic cell lineage
hsa04072  Phospholipase D signaling pathway
hsa04916  Melanogenesis

Diseases

Associated diseases	References
Azoo-oligozoospermia	PMID: 22194441
Cancer	PMID: 20543847
Deafness	OMIM: 184745
Endometriosis	PMID: 11076095
Female infertility	PMID: 19342032
Impaired spermatogenesis	PMID: 20384797
Male infertility	PMID: 16905672
Non-obstructive azoospermia (NOA)	PMID: 23869807
Oligozoospermia	PMID: 24083421
Endometriosis	INFBASE25194152
Polycystic ovary syndrome (PCOS)	PMID: 28051267
Spermatogenetic defects	PMID: 23869807
Vitiligo	PMID: 19416273

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25194152	Endometrio sis			60 (35 women wi th endometriosi s, 25 fertile e umenorrheic wom en)		Ki67 SCF Akt GSK3B	Show abstract
11076095	Endometrio sis				Female infertility	SCF	Show abstract