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Protein

Kit ligand

Gene

KITLG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGrowth factor
Biological processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-1433559 Regulation of KIT signaling
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P21583

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kit ligand
Alternative name(s):
Mast cell growth factor
Short name:
MGF
Stem cell factor
Short name:
SCF
c-Kit ligand
Cleaved into the following chain:
Soluble KIT ligand
Short name:
sKITLG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KITLG
Synonyms:MGF, SCF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000049130.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6343 KITLG

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
184745 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P21583

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 214ExtracellularSequence analysisAdd BLAST189
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei215 – 237HelicalSequence analysisAdd BLAST23
Topological domaini238 – 273CytoplasmicSequence analysisAdd BLAST36

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:145250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06323736N → 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
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss.
See also OMIM:616697
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07622267 – 68HC → R in DCUA; loss of cell membrane association. 1 Publication2

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
4254

MalaCards human disease database

More...
MalaCardsi
KITLG
MIMi145250 phenotype
611664 phenotype
616697 phenotype

Open Targets

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OpenTargetsi
ENSG00000049130

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30129

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2346489

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KITLG

Domain mapping of disease mutations (DMDM)

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DMDMi
134289

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Add BLAST25
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003191326 – 273Kit ligandAdd BLAST248
ChainiPRO_000040339126 – 190Soluble KIT ligandAdd BLAST165

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi29 ↔ 114
Disulfide bondi68 ↔ 163
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi90N-linked (GlcNAc...) asparagine; partial1 Publication1
Glycosylationi118N-linked (GlcNAc...) asparagine; partial1 Publication1
Glycosylationi145N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi167O-linked (GalNAc...) serine1 Publication1
Glycosylationi168O-linked (GalNAc...) threonine1 Publication1
Glycosylationi180O-linked (GalNAc...) threonine1 Publication1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain.1 Publication
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-97.1 Publication
A soluble form exists as a cleavage product of the extracellular domain.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei97Not glycosylated1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
P21583

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P21583

PeptideAtlas

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PeptideAtlasi
P21583

PRoteomics IDEntifications database

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PRIDEi
P21583

ProteomicsDB human proteome resource

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ProteomicsDBi
53880
53881 [P21583-2]
53882 [P21583-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P21583

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P21583

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
P21583

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Acts in the early stages of hematopoiesis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000049130 Expressed in 208 organ(s), highest expression level in visceral pleura

CleanEx database of gene expression profiles

More...
CleanExi
HS_KITLG

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P21583 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P21583 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA070395

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer, non-covalently linked (Probable). Heterotetramer with KIT, binding two KIT molecules; thereby mediates KIT dimerization and subsequent activation by autophosphorylation.Curated1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
KITP107212EBI-1379527,EBI-1379503

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110410, 9 interactors

Protein interaction database and analysis system

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IntActi
P21583, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000228280

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P21583

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1273
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

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DisProti
DP00917

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P21583

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P21583

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P21583

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SCF family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IF3Y Eukaryota
ENOG410XYQR LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018272

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG036146

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P21583

KEGG Orthology (KO)

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KOi
K05461

Identification of Orthologs from Complete Genome Data

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OMAi
VKTKGIC

Database of Orthologous Groups

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OrthoDBi
EOG091G0I23

Database for complete collections of gene phylogenies

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PhylomeDBi
P21583

TreeFam database of animal gene trees

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TreeFami
TF330811

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009079 4_helix_cytokine-like_core
IPR003452 SCF

The PANTHER Classification System

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PANTHERi
PTHR11574 PTHR11574, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02404 SCF, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF015599 SCF, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47266 SSF47266, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P21583-1) [UniParc]FASTAAdd to basket
Also known as: SCF248

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:273
Mass (Da):30,899
Last modified:May 1, 1991 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i19FD362CB59C6607
GO
Isoform 2 (identifier: P21583-2) [UniParc]FASTAAdd to basket
Also known as: SCF220

The sequence of this isoform differs from the canonical sequence as follows:
     174-202: DSRVSVTKPFMLPPVAASSLRNDSSSSNR → G

Show »
Length:245
Mass (Da):27,867
Checksum:i937AEA64456DF4FA
GO
Isoform 3 (identifier: P21583-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.
     36-43: NVKDVTKL → MPSCLAAQ

Note: No experimental confirmation available.
Show »
Length:238
Mass (Da):26,667
Checksum:i7D6B1E487BE3709B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R384S4R384_HUMAN
Kit ligand
KITLG
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R442S4R442_HUMAN
Kit ligand
KITLG
24Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y515A0A2R8Y515_HUMAN
Kit ligand
KITLG
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti55L → S in AAD22048 (PubMed:10049787).Curated1
Sequence conflicti55L → S in AAK92486 (Ref. 4) Curated1
Sequence conflicti128K → R in AAD22048 (PubMed:10049787).Curated1
Sequence conflicti128K → R in AAK92486 (Ref. 4) Curated1
Sequence conflicti134L → F in AAD22048 (PubMed:10049787).Curated1
Sequence conflicti134L → F in AAK92486 (Ref. 4) Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variants in KITLG define the skin/hair/eye pigmentation variation locus 7 (SHEP7) [MIMi: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.
A non-coding SNP (dbSNP:rs12821256) has been shown to be associated with classic blond hair color in Europeans. This SNP is located 350 kb upstream from KITLG, in an enhancer specifically active in the hair follicle environment. It alters a LEF1 binding site, reducing LEF1 responsiveness in cultured keratinocytes. This SNP is not associated with eye pigmentation. It is most prevalent in Northern Europe (PubMed:24880339).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06323736N → 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_04265254T → A. Corresponds to variant dbSNP:rs3741457Ensembl.1
Natural variantiVAR_07622267 – 68HC → R in DCUA; loss of cell membrane association. 1 Publication2
Natural variantiVAR_076223104L → 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_063238210D → Y. Corresponds to variant dbSNP:rs41283112EnsemblClinVar.1
Natural variantiVAR_042653232F → Y. Corresponds to variant dbSNP:rs12721563Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0327621 – 35Missing in isoform 3. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_03276336 – 43NVKDVTKL → MPSCLAAQ in isoform 3. 1 Publication8
Alternative sequenceiVSP_006022174 – 202DSRVS…SSSNR → G in isoform 2. 6 PublicationsAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31867.1 [P21583-2]
CCDS31868.1 [P21583-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A35974
B61190
S29052

NCBI Reference Sequences

More...
RefSeqi
NP_000890.1, NM_000899.4 [P21583-1]
NP_003985.2, NM_003994.5 [P21583-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.1048
Hs.661108

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000228280; ENSP00000228280; ENSG00000049130 [P21583-1]
ENST00000347404; ENSP00000054216; ENSG00000049130 [P21583-2]
ENST00000644744; ENSP00000495951; ENSG00000049130 [P21583-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4254

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4254

UCSC genome browser

More...
UCSCi
uc001tav.4 human [P21583-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS31867.1 [P21583-2]
CCDS31868.1 [P21583-1]
PIRiA35974
B61190
S29052
RefSeqiNP_000890.1, NM_000899.4 [P21583-1]
NP_003985.2, NM_003994.5 [P21583-2]
UniGeneiHs.1048
Hs.661108

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EXZX-ray2.30A/B/C/D26-166[»]
1SCFX-ray2.20A/B/C/D1-273[»]
2E9WX-ray3.50C/D26-166[»]
DisProtiDP00917
ProteinModelPortaliP21583
SMRiP21583
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110410, 9 interactors
IntActiP21583, 2 interactors
STRINGi9606.ENSP00000228280

Chemistry databases

BindingDBiP21583
ChEMBLiCHEMBL2346489

PTM databases

iPTMnetiP21583
PhosphoSitePlusiP21583

Polymorphism and mutation databases

BioMutaiKITLG
DMDMi134289

Proteomic databases

MaxQBiP21583
PaxDbiP21583
PeptideAtlasiP21583
PRIDEiP21583
ProteomicsDBi53880
53881 [P21583-2]
53882 [P21583-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4254
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000228280; ENSP00000228280; ENSG00000049130 [P21583-1]
ENST00000347404; ENSP00000054216; ENSG00000049130 [P21583-2]
ENST00000644744; ENSP00000495951; ENSG00000049130 [P21583-1]
GeneIDi4254
KEGGihsa:4254
UCSCiuc001tav.4 human [P21583-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4254
DisGeNETi4254
EuPathDBiHostDB:ENSG00000049130.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KITLG
HGNCiHGNC:6343 KITLG
HPAiHPA070395
MalaCardsiKITLG
MIMi145250 phenotype
184745 gene
611664 phenotype
616697 phenotype
neXtProtiNX_P21583
OpenTargetsiENSG00000049130
Orphaneti90635 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
PharmGKBiPA30129

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF3Y Eukaryota
ENOG410XYQR LUCA
GeneTreeiENSGT00390000018272
HOVERGENiHBG036146
InParanoidiP21583
KOiK05461
OMAiVKTKGIC
OrthoDBiEOG091G0I23
PhylomeDBiP21583
TreeFamiTF330811

Enzyme and pathway databases

ReactomeiR-HSA-1257604 PIP3 activates AKT signaling
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-1433559 Regulation of KIT signaling
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
SIGNORiP21583

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KITLG human
EvolutionaryTraceiP21583

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Stem_cell_factor

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4254
PMAP-CutDBiP21583

Protein Ontology

More...
PROi
PR:P21583

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000049130 Expressed in 208 organ(s), highest expression level in visceral pleura
CleanExiHS_KITLG
ExpressionAtlasiP21583 baseline and differential
GenevisibleiP21583 HS

Family and domain databases

InterProiView protein in InterPro
IPR009079 4_helix_cytokine-like_core
IPR003452 SCF
PANTHERiPTHR11574 PTHR11574, 1 hit
PfamiView protein in Pfam
PF02404 SCF, 1 hit
PIRSFiPIRSF015599 SCF, 1 hit
SUPFAMiSSF47266 SSF47266, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCF_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P21583
Secondary accession number(s): A0AV09
, A8K2Q4, B7ZLM4, Q16487, Q68DZ2, Q7M4N8, Q9UQK7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: May 1, 1991
Last modified: November 7, 2018
This is version 176 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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