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P21583

- SCF_HUMAN

UniProt

P21583 - SCF_HUMAN

Protein

Kit ligand

Gene

KITLG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 1 (01 May 1991)
      Previous versions | rss
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    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.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei97 – 971Not glycosylated

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. stem cell factor receptor binding Source: ProtInc

    GO - Biological processi

    1. cell adhesion Source: UniProtKB-KW
    2. cell proliferation Source: ProtInc
    3. ectopic germ cell programmed cell death Source: Ensembl
    4. embryonic hemopoiesis Source: DFLAT
    5. epidermal growth factor receptor signaling pathway Source: Reactome
    6. extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
    7. Fc-epsilon receptor signaling pathway Source: Reactome
    8. fibroblast growth factor receptor signaling pathway Source: Reactome
    9. innate immune response Source: Reactome
    10. male gonad development Source: UniProtKB
    11. negative regulation of mast cell apoptotic process Source: Ensembl
    12. neural crest cell migration Source: Ensembl
    13. neurotrophin TRK receptor signaling pathway Source: Reactome
    14. phosphatidylinositol-mediated signaling Source: Reactome
    15. positive regulation of DNA replication Source: BHF-UCL
    16. positive regulation of MAP kinase activity Source: Ensembl
    17. positive regulation of mast cell proliferation Source: Ensembl
    18. positive regulation of melanocyte differentiation Source: Ensembl
    19. positive regulation of myeloid leukocyte differentiation Source: Ensembl
    20. positive regulation of peptidyl-tyrosine phosphorylation Source: Ensembl
    21. positive regulation of Ras protein signal transduction Source: Ensembl
    22. signal transduction Source: ProtInc

    Keywords - Molecular functioni

    Growth factor

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    ReactomeiREACT_111040. Signaling by SCF-KIT.
    REACT_111225. Regulation of KIT signaling.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_75829. PIP3 activates AKT signaling.

    Names & Taxonomyi

    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
    Gene namesi
    Name:KITLG
    Synonyms:MGF, SCF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6343. KITLG.

    Subcellular locationi

    Isoform 2 : Cell membrane By similarity; Single-pass type I membrane protein By similarity. Cytoplasmcytoskeleton By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. cytoskeleton Source: UniProtKB-SubCell
    3. extracellular region Source: Reactome
    4. extracellular space Source: Ensembl
    5. integral component of membrane Source: UniProtKB-KW
    6. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Familial progressive hyperpigmentation (FPH) [MIM:145250]: A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361N → S in FPH; 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 Publication
    VAR_063237

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi145250. phenotype.
    611664. phenotype.
    Orphaneti280628. Familial progressive hyper- and hypopigmentation.
    79146. Familial progressive hyperpigmentation.
    363494. Testicular non seminomatous germ cell tumor.
    842. Testicular seminomatous germ cell tumor.
    PharmGKBiPA30129.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Add
    BLAST
    Chaini26 – 273248Kit ligandPRO_0000031913Add
    BLAST
    Chaini26 – 190165Soluble KIT ligandPRO_0000403391Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi29 ↔ 114
    Disulfide bondi68 ↔ 163
    Glycosylationi90 – 901N-linked (GlcNAc...); partial1 Publication
    Glycosylationi118 – 1181N-linked (GlcNAc...); partial1 Publication
    Glycosylationi145 – 1451N-linked (GlcNAc...)1 Publication
    Glycosylationi167 – 1671O-linked (GalNAc...)1 Publication
    Glycosylationi168 – 1681O-linked (GalNAc...)1 Publication
    Glycosylationi180 – 1801O-linked (GalNAc...)1 Publication
    Glycosylationi195 – 1951N-linked (GlcNAc...)Sequence Analysis

    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

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP21583.
    PaxDbiP21583.
    PRIDEiP21583.

    PTM databases

    PhosphoSiteiP21583.

    Miscellaneous databases

    PMAP-CutDBP21583.

    Expressioni

    Developmental stagei

    Acts in the early stages of hematopoiesis.

    Gene expression databases

    BgeeiP21583.
    CleanExiHS_KITLG.
    GenevestigatoriP21583.

    Organism-specific databases

    HPAiCAB004569.

    Interactioni

    Subunit structurei

    Homodimer, non-covalently linked Probable. Heterotetramer with KIT, binding two KIT molecules; thereby mediates KIT dimerization and subsequent activation by autophosphorylation.1 PublicationCurated

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi110410. 4 interactions.
    IntActiP21583. 2 interactions.
    STRINGi9606.ENSP00000228280.

    Structurei

    Secondary structure

    1
    273
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi30 – 323
    Helixi37 – 4610
    Beta strandi53 – 564
    Turni59 – 635
    Helixi66 – 683
    Helixi70 – 8516
    Beta strandi92 – 943
    Helixi97 – 11418
    Beta strandi120 – 1223
    Beta strandi132 – 1354
    Helixi137 – 14913
    Turni150 – 1523
    Beta strandi157 – 1604

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1EXZX-ray2.30A/B/C/D26-166[»]
    1SCFX-ray2.20A/B/C/D1-273[»]
    2E9WX-ray3.50C/D26-166[»]
    ProteinModelPortaliP21583.
    SMRiP21583. Positions 36-154.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP21583.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini26 – 214189ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini238 – 27336CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei215 – 23723HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the SCF family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39386.
    HOVERGENiHBG036146.
    KOiK05461.
    OMAiVKTKGIC.
    OrthoDBiEOG70ZZP2.
    PhylomeDBiP21583.
    TreeFamiTF330811.

    Family and domain databases

    Gene3Di1.20.1250.10. 1 hit.
    InterProiIPR009079. 4_helix_cytokine-like_core.
    IPR012351. 4_helix_cytokine_core.
    IPR003452. SCF.
    [Graphical view]
    PANTHERiPTHR11574. PTHR11574. 1 hit.
    PfamiPF02404. SCF. 1 hit.
    [Graphical view]
    PIRSFiPIRSF015599. SCF. 1 hit.
    SUPFAMiSSF47266. SSF47266. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MKKTQTWILT CIYLQLLLFN PLVKTEGICR NRVTNNVKDV TKLVANLPKD    50
    YMITLKYVPG MDVLPSHCWI SEMVVQLSDS LTDLLDKFSN ISEGLSNYSI 100
    IDKLVNIVDD LVECVKENSS KDLKKSFKSP EPRLFTPEEF FRIFNRSIDA 150
    FKDFVVASET SDCVVSSTLS PEKDSRVSVT KPFMLPPVAA SSLRNDSSSS 200
    NRKAKNPPGD SSLHWAAMAL PALFSLIIGF AFGALYWKKR QPSLTRAVEN 250
    IQINEEDNEI SMLQEKEREF QEV 273
    Length:273
    Mass (Da):30,899
    Last modified:May 1, 1991 - v1
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti55 – 551L → S in AAD22048. (PubMed:10049787)Curated
    Sequence conflicti55 – 551L → S in AAK92486. 1 PublicationCurated
    Sequence conflicti128 – 1281K → R in AAD22048. (PubMed:10049787)Curated
    Sequence conflicti128 – 1281K → R in AAK92486. 1 PublicationCurated
    Sequence conflicti134 – 1341L → F in AAD22048. (PubMed:10049787)Curated
    Sequence conflicti134 – 1341L → F in AAK92486. 1 PublicationCurated

    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361N → S in FPH; 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 Publication
    VAR_063237
    Natural varianti54 – 541T → A.
    Corresponds to variant rs3741457 [ dbSNP | Ensembl ].
    VAR_042652
    Natural varianti210 – 2101D → Y.
    Corresponds to variant rs41283112 [ dbSNP | Ensembl ].
    VAR_063238
    Natural varianti232 – 2321F → Y.
    Corresponds to variant rs12721563 [ dbSNP | Ensembl ].
    VAR_042653

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3535Missing in isoform 3. 1 PublicationVSP_032762Add
    BLAST
    Alternative sequencei36 – 438NVKDVTKL → MPSCLAAQ in isoform 3. 1 PublicationVSP_032763
    Alternative sequencei174 – 20229DSRVS…SSSNR → G in isoform 2. 6 PublicationsVSP_006022Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Genome annotation databases

    EnsembliENST00000228280; ENSP00000228280; ENSG00000049130. [P21583-1]
    ENST00000347404; ENSP00000054216; ENSG00000049130. [P21583-2]
    GeneIDi4254.
    KEGGihsa:4254.
    UCSCiuc001tav.3. human. [P21583-1]
    uc001taw.3. human. [P21583-2]

    Polymorphism databases

    DMDMi134289.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Hs.1048.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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 [» ]
    ProteinModelPortali P21583.
    SMRi P21583. Positions 36-154.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110410. 4 interactions.
    IntActi P21583. 2 interactions.
    STRINGi 9606.ENSP00000228280.

    Chemistry

    BindingDBi P21583.
    ChEMBLi CHEMBL2346489.

    PTM databases

    PhosphoSitei P21583.

    Polymorphism databases

    DMDMi 134289.

    Proteomic databases

    MaxQBi P21583.
    PaxDbi P21583.
    PRIDEi P21583.

    Protocols and materials databases

    DNASUi 4254.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000228280 ; ENSP00000228280 ; ENSG00000049130 . [P21583-1 ]
    ENST00000347404 ; ENSP00000054216 ; ENSG00000049130 . [P21583-2 ]
    GeneIDi 4254.
    KEGGi hsa:4254.
    UCSCi uc001tav.3. human. [P21583-1 ]
    uc001taw.3. human. [P21583-2 ]

    Organism-specific databases

    CTDi 4254.
    GeneCardsi GC12M088823.
    HGNCi HGNC:6343. KITLG.
    HPAi CAB004569.
    MIMi 145250. phenotype.
    184745. gene.
    611664. phenotype.
    neXtProti NX_P21583.
    Orphaneti 280628. Familial progressive hyper- and hypopigmentation.
    79146. Familial progressive hyperpigmentation.
    363494. Testicular non seminomatous germ cell tumor.
    842. Testicular seminomatous germ cell tumor.
    PharmGKBi PA30129.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39386.
    HOVERGENi HBG036146.
    KOi K05461.
    OMAi VKTKGIC.
    OrthoDBi EOG70ZZP2.
    PhylomeDBi P21583.
    TreeFami TF330811.

    Enzyme and pathway databases

    Reactomei REACT_111040. Signaling by SCF-KIT.
    REACT_111225. Regulation of KIT signaling.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_75829. PIP3 activates AKT signaling.

    Miscellaneous databases

    ChiTaRSi KITLG. human.
    EvolutionaryTracei P21583.
    GeneWikii Stem_cell_factor.
    GenomeRNAii 4254.
    NextBioi 16773.
    PMAP-CutDB P21583.
    PROi P21583.
    SOURCEi Search...

    Gene expression databases

    Bgeei P21583.
    CleanExi HS_KITLG.
    Genevestigatori P21583.

    Family and domain databases

    Gene3Di 1.20.1250.10. 1 hit.
    InterProi IPR009079. 4_helix_cytokine-like_core.
    IPR012351. 4_helix_cytokine_core.
    IPR003452. SCF.
    [Graphical view ]
    PANTHERi PTHR11574. PTHR11574. 1 hit.
    Pfami PF02404. SCF. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF015599. SCF. 1 hit.
    SUPFAMi SSF47266. SSF47266. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Alternate splicing of mRNAs encoding human mast cell growth factor and localization of the gene to chromosome 12q22-q24."
      Anderson D.M., Williams D.E., Tushinski R., Gimpel S., Eisenman J., Cannizzaro L.A., Aronson M., Croce C.M., Huebner K., Cosman D.
      Cell Growth Differ. 2:373-378(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "Parathyroid hormone-regulated production of stem cell factor in human osteoblasts and osteoblast-like cells."
      Blair H.C., Julian B.A., Cao X., Jordan S.E., Dong S.S.
      Biochem. Biophys. Res. Commun. 255:778-784(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. Han C., Peng X., Yuan J., Qiang B.
      Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Tongue and Trachea.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Amygdala.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Colon.
    9. "Post-translational processing of membrane-associated recombinant human stem cell factor expressed in Chinese hamster ovary cells."
      Lu H.S., Clogston C.L., Wypych J., Parker V.P., Lee T.D., Swiderek K., Baltera R.F. Jr., Patel A.C., Chang D.C., Brankow D.W., Liu X.-D., Ogden S.G., Karkare S.B., Hu S.S., Zsebo K.M., Langley K.E.
      Arch. Biochem. Biophys. 298:150-158(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 26-40; 64-79; 87-102; 110-149 AND 154-190 (ISOFORM 1), DISULFIDE BONDS, SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING, GLYCOSYLATION AT ASN-90; ASN-118; ASN-145; SER-167; THR-168 AND THR-180.
    10. "Expression of two types of kit ligand mRNAs in human tumor cells."
      Toyota M., Hinoda Y., Itoh F., Tsujisaki M., Imai K., Yachi A.
      Int. J. Hematol. 55:301-304(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 167-248 (ISOFORM 2).
    11. "Stem cell factor/c-kit system in spermatogenesis."
      Mauduit C., Hamamah S., Benahmed M.
      Hum. Reprod. Update 5:535-545(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    12. "Signal transduction via the stem cell factor receptor/c-Kit."
      Ronnstrand L.
      Cell. Mol. Life Sci. 61:2535-2548(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    13. "Normal and oncogenic forms of the receptor tyrosine kinase kit."
      Lennartsson J., Jelacic T., Linnekin D., Shivakrupa R.
      Stem Cells 23:16-43(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    14. Cited for: INVOLVEMENT IN SHEP7.
    15. "A molecular basis for classic blond hair color in Europeans."
      Guenther C.A., Tasic B., Luo L., Bedell M.A., Kingsley D.M.
      Nat. Genet. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM LINKED TO BLOND HAIR COLOR.
    16. "Structure of the active core of human stem cell factor and analysis of binding to its receptor kit."
      Jiang X., Gurel O., Mendiaz E.A., Stearns G.W., Clogston C.L., Lu H.S., Osslund T.D., Syed R.S., Langley K.E., Hendrickson W.A.
      EMBO J. 19:3192-3203(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS), DISULFIDE BONDS.
    17. "Crystal structure of human stem cell factor: implication for stem cell factor receptor dimerization and activation."
      Zhang Z., Zhang R., Joachimiak A., Schlessinger J., Kong X.P.
      Proc. Natl. Acad. Sci. U.S.A. 97:7732-7737(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 26-166, DISULFIDE BONDS.
    18. "Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor."
      Yuzawa S., Opatowsky Y., Zhang Z., Mandiyan V., Lax I., Schlessinger J.
      Cell 130:323-334(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.5 ANGSTROMS) OF 26-166 IN COMPLEX WITH KIT, DISULFIDE BONDS.
    19. "Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation."
      Wang Z.-Q., Si L., Tang Q., Lin D., Fu Z., Zhang J., Cui B., Zhu Y., Kong X., Deng M., Xia Y., Xu H., Le W., Hu L., Kong X.
      Am. J. Hum. Genet. 84:672-677(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FPH SER-36, CHARACTERIZATION OF VARIANT FPH SER-36.

    Entry informationi

    Entry nameiSCF_HUMAN
    AccessioniPrimary (citable) accession number: P21583
    Secondary accession number(s): A0AV09
    , A8K2Q4, B7ZLM4, Q16487, Q68DZ2, Q7M4N8, Q9UQK7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 1991
    Last sequence update: May 1, 1991
    Last modified: October 1, 2014
    This is version 142 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

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

    Documents

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

    External Data

    Dasty 3