UniProtKB - P21583 (SCF_HUMAN)
Kit ligand
KITLG
Functioni
GO - Molecular functioni
- cytokine activity Source: GO_Central
- growth factor activity Source: UniProtKB-KW
- stem cell factor receptor binding Source: GO_Central
GO - Biological processi
- cell adhesion Source: UniProtKB-KW
- ectopic germ cell programmed cell death Source: Ensembl
- embryonic hemopoiesis Source: DFLAT
- extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
- male gonad development Source: UniProtKB
- MAPK cascade Source: Reactome
- negative regulation of mast cell apoptotic process Source: Ensembl
- neural crest cell migration Source: Ensembl
- ovarian follicle development Source: Ensembl
- positive regulation of cell population proliferation Source: BHF-UCL
- positive regulation of hematopoietic progenitor cell differentiation Source: GO_Central
- positive regulation of hematopoietic stem cell proliferation Source: Ensembl
- positive regulation of leukocyte migration Source: Ensembl
- positive regulation of MAP kinase activity Source: Ensembl
- positive regulation of mast cell proliferation Source: Ensembl
- positive regulation of melanocyte differentiation Source: Ensembl
- positive regulation of myeloid leukocyte differentiation Source: Ensembl
- positive regulation of peptidyl-tyrosine phosphorylation Source: Ensembl
- positive regulation of protein kinase B signaling Source: Reactome
- positive regulation of Ras protein signal transduction Source: Ensembl
Keywordsi
Molecular function | Growth factor |
Biological process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | P21583 |
Reactomei | R-HSA-1257604, PIP3 activates AKT signaling [P21583-1] R-HSA-1433557, Signaling by SCF-KIT [P21583-1] R-HSA-1433559, Regulation of KIT signaling [P21583-1] R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer [P21583-1] R-HSA-5673001, RAF/MAP kinase cascade [P21583-1] R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling [P21583-1] |
SIGNORi | P21583 |
Names & Taxonomyi
Protein namesi | Recommended name: Kit ligandAlternative name(s): Mast cell growth factor Short name: MGF Stem cell factor Short name: SCF c-Kit ligand Cleaved into the following chain: |
Gene namesi | Name:KITLG Synonyms:MGF, SCF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000049130.13 |
HGNCi | HGNC:6343, KITLG |
MIMi | 184745, gene |
neXtProti | NX_P21583 |
Subcellular locationi
Plasma membrane
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein By similarity
Cytoskeleton
- cytoskeleton By similarity
Other locations
- Cytoplasm 1 Publication
- lamellipodium 1 Publication
- filopodium 1 Publication
Extracellular region or secreted
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular region Source: Reactome
- extracellular space Source: Ensembl
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- filopodium Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- lamellipodium Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 26 – 214 | ExtracellularSequence analysisAdd BLAST | 189 | |
Transmembranei | 215 – 237 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 238 – 273 | CytoplasmicSequence analysisAdd BLAST | 36 |
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063237 | 36 | N → S in FPHH; gain-of-function mutation; sKITLG reveales that the mutant Ser-36 sKITLG increases the content of the melanin by 109% compared with the wild-type sKITLG; tyrosinase activity is significantly increased by the mutant sKITLG compared to wild-type control. 1 PublicationCorresponds to variant dbSNP:rs121918653EnsemblClinVar. | 1 |
Deafness, congenital, unilateral or asymmetric (DCUA)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076222 | 67 – 68 | HC → R in DCUA; loss of cell membrane association. 1 Publication | 2 |
Keywords - Diseasei
Deafness, Disease mutation, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 4254 |
MalaCardsi | KITLG |
MIMi | 145250, phenotype 611664, phenotype 616697, phenotype |
OpenTargetsi | ENSG00000049130 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA 280628, Familial progressive hyper- and hypopigmentation 79146, Familial progressive hyperpigmentation 363494, Non-seminomatous germ cell tumor of testis 895, Waardenburg syndrome type 2 |
PharmGKBi | PA30129 |
Miscellaneous databases
Pharosi | P21583, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2346489 |
Polymorphism and mutation databases
BioMutai | KITLG |
DMDMi | 134289 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 25 | Add BLAST | 25 | |
ChainiPRO_0000031913 | 26 – 273 | Kit ligandAdd BLAST | 248 | |
ChainiPRO_0000403391 | 26 – 190 | Soluble KIT ligandAdd BLAST | 165 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 29 ↔ 114 | |||
Disulfide bondi | 68 ↔ 163 | |||
Glycosylationi | 90 | N-linked (GlcNAc...) asparagine; partial1 Publication | 1 | |
Glycosylationi | 118 | N-linked (GlcNAc...) asparagine; partial1 Publication | 1 | |
Glycosylationi | 145 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 167 | O-linked (GalNAc...) serine1 Publication | 1 | |
Glycosylationi | 168 | O-linked (GalNAc...) threonine1 Publication | 1 | |
Glycosylationi | 180 | O-linked (GalNAc...) threonine1 Publication | 1 | |
Glycosylationi | 195 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 97 | Not glycosylated | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | P21583 |
MassIVEi | P21583 |
MaxQBi | P21583 |
PaxDbi | P21583 |
PeptideAtlasi | P21583 |
PRIDEi | P21583 |
ProteomicsDBi | 53880 [P21583-1] 53881 [P21583-2] 53882 [P21583-3] |
PTM databases
GlyGeni | P21583, 7 sites |
iPTMneti | P21583 |
MetOSitei | P21583 |
PhosphoSitePlusi | P21583 |
Expressioni
Developmental stagei
Gene expression databases
Bgeei | ENSG00000049130, Expressed in visceral pleura and 221 other tissues |
ExpressionAtlasi | P21583, baseline and differential |
Genevisiblei | P21583, HS |
Organism-specific databases
HPAi | ENSG00000049130, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer, non-covalently linked (Probable). Heterotetramer with KIT, binding two KIT molecules; thereby mediates KIT dimerization and subsequent activation by autophosphorylation.
Curated1 PublicationBinary interactionsi
P21583
With | #Exp. | IntAct |
---|---|---|
KIT [P10721] | 2 | EBI-1379527,EBI-1379503 |
GO - Molecular functioni
- cytokine activity Source: GO_Central
- growth factor activity Source: UniProtKB-KW
- stem cell factor receptor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 110410, 9 interactors |
IntActi | P21583, 6 interactors |
STRINGi | 9606.ENSP00000228280 |
Chemistry databases
BindingDBi | P21583 |
Miscellaneous databases
RNActi | P21583, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P21583 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P21583 |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QTGT, Eukaryota |
GeneTreei | ENSGT00390000018272 |
HOGENOMi | CLU_090207_0_0_1 |
InParanoidi | P21583 |
OMAi | CWISVMV |
PhylomeDBi | P21583 |
TreeFami | TF330811 |
Family and domain databases
DisProti | DP00917 |
InterProi | View protein in InterPro IPR009079, 4_helix_cytokine-like_core IPR003452, SCF |
PANTHERi | PTHR11574, PTHR11574, 1 hit |
Pfami | View protein in Pfam PF02404, SCF, 1 hit |
PIRSFi | PIRSF015599, SCF, 1 hit |
SUPFAMi | SSF47266, SSF47266, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKKTQTWILT CIYLQLLLFN PLVKTEGICR NRVTNNVKDV TKLVANLPKD
60 70 80 90 100
YMITLKYVPG MDVLPSHCWI SEMVVQLSDS LTDLLDKFSN ISEGLSNYSI
110 120 130 140 150
IDKLVNIVDD LVECVKENSS KDLKKSFKSP EPRLFTPEEF FRIFNRSIDA
160 170 180 190 200
FKDFVVASET SDCVVSSTLS PEKDSRVSVT KPFMLPPVAA SSLRNDSSSS
210 220 230 240 250
NRKAKNPPGD SSLHWAAMAL PALFSLIIGF AFGALYWKKR QPSLTRAVEN
260 270
IQINEEDNEI SMLQEKEREF QEV
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketS4R442 | S4R442_HUMAN | Kit ligand | KITLG | 24 | Annotation score: | ||
S4R384 | S4R384_HUMAN | Kit ligand | KITLG | 56 | Annotation score: | ||
A0A2R8Y515 | A0A2R8Y515_HUMAN | Kit ligand | KITLG | 57 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 55 | L → S in AAD22048 (PubMed:10049787).Curated | 1 | |
Sequence conflicti | 55 | L → S in AAK92486 (Ref. 4) Curated | 1 | |
Sequence conflicti | 128 | K → R in AAD22048 (PubMed:10049787).Curated | 1 | |
Sequence conflicti | 128 | K → R in AAK92486 (Ref. 4) Curated | 1 | |
Sequence conflicti | 134 | L → F in AAD22048 (PubMed:10049787).Curated | 1 | |
Sequence conflicti | 134 | L → F in AAK92486 (Ref. 4) Curated | 1 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063237 | 36 | N → S in FPHH; gain-of-function mutation; sKITLG reveales that the mutant Ser-36 sKITLG increases the content of the melanin by 109% compared with the wild-type sKITLG; tyrosinase activity is significantly increased by the mutant sKITLG compared to wild-type control. 1 PublicationCorresponds to variant dbSNP:rs121918653EnsemblClinVar. | 1 | |
Natural variantiVAR_042652 | 54 | T → A. Corresponds to variant dbSNP:rs3741457EnsemblClinVar. | 1 | |
Natural variantiVAR_076222 | 67 – 68 | HC → R in DCUA; loss of cell membrane association. 1 Publication | 2 | |
Natural variantiVAR_076223 | 104 | L → V Found in a patient with Waardenburg syndrome type 2 (WS2) and hearing loss; unknown pathological significance; reduces secretion. 1 PublicationCorresponds to variant dbSNP:rs864309655EnsemblClinVar. | 1 | |
Natural variantiVAR_063238 | 210 | D → Y. Corresponds to variant dbSNP:rs41283112EnsemblClinVar. | 1 | |
Natural variantiVAR_042653 | 232 | F → Y. Corresponds to variant dbSNP:rs12721563Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032762 | 1 – 35 | Missing in isoform 3. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_032763 | 36 – 43 | NVKDVTKL → MPSCLAAQ in isoform 3. 1 Publication | 8 | |
Alternative sequenceiVSP_006022 | 174 – 202 | DSRVS…SSSNR → G in isoform 2. 6 PublicationsAdd BLAST | 29 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M59964 mRNA Translation: AAA85450.1 AF119835 mRNA Translation: AAD22048.1 AF400436 mRNA Translation: AAK92485.1 AF400437 mRNA Translation: AAK92486.1 AK290319 mRNA Translation: BAF83008.1 AK293002 mRNA Translation: BAF85691.1 CR749222 mRNA Translation: CAH18078.1 CH471054 Genomic DNA Translation: EAW97417.1 BC069733 mRNA Translation: AAH69733.1 BC069783 mRNA Translation: AAH69783.1 BC069797 mRNA Translation: AAH69797.1 BC074725 mRNA Translation: AAH74725.1 BC126166 mRNA Translation: AAI26167.1 BC143899 mRNA Translation: AAI43900.1 S42571 mRNA Translation: AAB22846.2 |
CCDSi | CCDS31867.1 [P21583-2] CCDS31868.1 [P21583-1] |
PIRi | A35974 B61190 S29052 |
RefSeqi | NP_000890.1, NM_000899.4 [P21583-1] NP_003985.2, NM_003994.5 [P21583-2] |
Genome annotation databases
Ensembli | ENST00000347404; ENSP00000054216; ENSG00000049130 [P21583-2] ENST00000644744; ENSP00000495951; ENSG00000049130 [P21583-1] |
GeneIDi | 4254 |
KEGGi | hsa:4254 |
UCSCi | uc001tav.4, human [P21583-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Protein Spotlight two's company - Issue 163 of August 2014 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M59964 mRNA Translation: AAA85450.1 AF119835 mRNA Translation: AAD22048.1 AF400436 mRNA Translation: AAK92485.1 AF400437 mRNA Translation: AAK92486.1 AK290319 mRNA Translation: BAF83008.1 AK293002 mRNA Translation: BAF85691.1 CR749222 mRNA Translation: CAH18078.1 CH471054 Genomic DNA Translation: EAW97417.1 BC069733 mRNA Translation: AAH69733.1 BC069783 mRNA Translation: AAH69783.1 BC069797 mRNA Translation: AAH69797.1 BC074725 mRNA Translation: AAH74725.1 BC126166 mRNA Translation: AAI26167.1 BC143899 mRNA Translation: AAI43900.1 S42571 mRNA Translation: AAB22846.2 |
CCDSi | CCDS31867.1 [P21583-2] CCDS31868.1 [P21583-1] |
PIRi | A35974 B61190 S29052 |
RefSeqi | NP_000890.1, NM_000899.4 [P21583-1] NP_003985.2, NM_003994.5 [P21583-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1EXZ | X-ray | 2.30 | A/B/C/D | 26-166 | [»] | |
1SCF | X-ray | 2.20 | A/B/C/D | 1-273 | [»] | |
2E9W | X-ray | 3.50 | C/D | 26-166 | [»] | |
SMRi | P21583 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110410, 9 interactors |
IntActi | P21583, 6 interactors |
STRINGi | 9606.ENSP00000228280 |
Chemistry databases
BindingDBi | P21583 |
ChEMBLi | CHEMBL2346489 |
PTM databases
GlyGeni | P21583, 7 sites |
iPTMneti | P21583 |
MetOSitei | P21583 |
PhosphoSitePlusi | P21583 |
Polymorphism and mutation databases
BioMutai | KITLG |
DMDMi | 134289 |
Proteomic databases
jPOSTi | P21583 |
MassIVEi | P21583 |
MaxQBi | P21583 |
PaxDbi | P21583 |
PeptideAtlasi | P21583 |
PRIDEi | P21583 |
ProteomicsDBi | 53880 [P21583-1] 53881 [P21583-2] 53882 [P21583-3] |
Protocols and materials databases
Antibodypediai | 3883, 882 antibodies |
DNASUi | 4254 |
Genome annotation databases
Ensembli | ENST00000347404; ENSP00000054216; ENSG00000049130 [P21583-2] ENST00000644744; ENSP00000495951; ENSG00000049130 [P21583-1] |
GeneIDi | 4254 |
KEGGi | hsa:4254 |
UCSCi | uc001tav.4, human [P21583-1] |
Organism-specific databases
CTDi | 4254 |
DisGeNETi | 4254 |
EuPathDBi | HostDB:ENSG00000049130.13 |
GeneCardsi | KITLG |
HGNCi | HGNC:6343, KITLG |
HPAi | ENSG00000049130, Low tissue specificity |
MalaCardsi | KITLG |
MIMi | 145250, phenotype 184745, gene 611664, phenotype 616697, phenotype |
neXtProti | NX_P21583 |
OpenTargetsi | ENSG00000049130 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA 280628, Familial progressive hyper- and hypopigmentation 79146, Familial progressive hyperpigmentation 363494, Non-seminomatous germ cell tumor of testis 895, Waardenburg syndrome type 2 |
PharmGKBi | PA30129 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTGT, Eukaryota |
GeneTreei | ENSGT00390000018272 |
HOGENOMi | CLU_090207_0_0_1 |
InParanoidi | P21583 |
OMAi | CWISVMV |
PhylomeDBi | P21583 |
TreeFami | TF330811 |
Enzyme and pathway databases
PathwayCommonsi | P21583 |
Reactomei | R-HSA-1257604, PIP3 activates AKT signaling [P21583-1] R-HSA-1433557, Signaling by SCF-KIT [P21583-1] R-HSA-1433559, Regulation of KIT signaling [P21583-1] R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer [P21583-1] R-HSA-5673001, RAF/MAP kinase cascade [P21583-1] R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling [P21583-1] |
SIGNORi | P21583 |
Miscellaneous databases
BioGRID-ORCSi | 4254, 1 hit in 846 CRISPR screens |
ChiTaRSi | KITLG, human |
EvolutionaryTracei | P21583 |
GeneWikii | Stem_cell_factor |
GenomeRNAii | 4254 |
Pharosi | P21583, Tbio |
PROi | PR:P21583 |
RNActi | P21583, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000049130, Expressed in visceral pleura and 221 other tissues |
ExpressionAtlasi | P21583, baseline and differential |
Genevisiblei | P21583, HS |
Family and domain databases
DisProti | DP00917 |
InterProi | View protein in InterPro IPR009079, 4_helix_cytokine-like_core IPR003452, SCF |
PANTHERi | PTHR11574, PTHR11574, 1 hit |
Pfami | View protein in Pfam PF02404, SCF, 1 hit |
PIRSFi | PIRSF015599, SCF, 1 hit |
SUPFAMi | SSF47266, SSF47266, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SCF_HUMAN | |
Accessioni | P21583Primary (citable) accession number: P21583 Secondary accession number(s): A0AV09 Q9UQK7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 1, 1991 |
Last sequence update: | May 1, 1991 | |
Last modified: | December 2, 2020 | |
This is version 190 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations