1scf
From Proteopedia
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{{STRUCTURE_1scf| PDB=1scf | SCENE= }} | {{STRUCTURE_1scf| PDB=1scf | SCENE= }} | ||
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===HUMAN RECOMBINANT STEM CELL FACTOR=== | ===HUMAN RECOMBINANT STEM CELL FACTOR=== | ||
| + | {{ABSTRACT_PUBMED_10880433}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/SCF_HUMAN SCF_HUMAN]] Defects in KITLG are the cause of familial progressive hyperpigmentation (FPH) [MIM:[http://omim.org/entry/145250 145250]]; also called melanosis universalis hereditaria (MUH). FPH is an autosomal-dominantly inherited disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age.<ref>PMID:19375057</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/SCF_HUMAN SCF_HUMAN]] 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. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:010880433</ref><ref group="xtra">PMID:012215425</ref><references group="xtra"/> | + | <ref group="xtra">PMID:010880433</ref><ref group="xtra">PMID:012215425</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Gurel, O.]] | [[Category: Gurel, O.]] | ||
Revision as of 01:03, 25 March 2013
Contents |
HUMAN RECOMBINANT STEM CELL FACTOR
Template:ABSTRACT PUBMED 10880433
Disease
[SCF_HUMAN] Defects in KITLG are the cause of familial progressive hyperpigmentation (FPH) [MIM:145250]; also called melanosis universalis hereditaria (MUH). FPH is an autosomal-dominantly inherited disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age.[1]
Function
[SCF_HUMAN] 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.
About this Structure
1scf is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Jiang X, Gurel O, Mendiaz EA, Stearns GW, Clogston CL, Lu HS, Osslund TD, Syed RS, Langley KE, Hendrickson WA. Structure of the active core of human stem cell factor and analysis of binding to its receptor kit. EMBO J. 2000 Jul 3;19(13):3192-203. PMID:10880433 doi:10.1093/emboj/19.13.3192
- Hill EE, Morea V, Chothia C. Sequence conservation in families whose members have little or no sequence similarity: the four-helical cytokines and cytochromes. J Mol Biol. 2002 Sep 6;322(1):205-33. PMID:12215425
- ↑ Wang ZQ, 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. Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. Am J Hum Genet. 2009 May;84(5):672-7. doi: 10.1016/j.ajhg.2009.03.019. Epub 2009 , Apr 16. PMID:19375057 doi:10.1016/j.ajhg.2009.03.019
