4kk0: Difference between revisions
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==Crystal Structure of TSC1 core domain from S. pombe== | |||
<StructureSection load='4kk0' size='340' side='right' caption='[[4kk0]], [[Resolution|resolution]] 2.90Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[4kk0]] is a 10 chain structure with sequence from [http://en.wikipedia.org/wiki/Schizosaccharomyces_pombe_972h- Schizosaccharomyces pombe 972h-]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4KK0 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4KK0 FirstGlance]. <br> | |||
==Function== | </td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr> | ||
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4kk1|4kk1]]</td></tr> | |||
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SPAC22F3.13, tsc1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=284812 Schizosaccharomyces pombe 972h-])</td></tr> | |||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4kk0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kk0 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4kk0 RCSB], [http://www.ebi.ac.uk/pdbsum/4kk0 PDBsum]</span></td></tr> | |||
</table> | |||
== Function == | |||
[[http://www.uniprot.org/uniprot/TSC1_SCHPO TSC1_SCHPO]] Together with tsc2, required for uptake of various amino-acids from the environment and for proper conjugation. Involved in induction of gene expression of permeases and genes required for meiosis upon nitrogen starvation. May act as a GTPase-activating protein (GAP) for the small GTPase rhb1.<ref>PMID:12136010</ref> <ref>PMID:14718525</ref> <ref>PMID:16624901</ref> | [[http://www.uniprot.org/uniprot/TSC1_SCHPO TSC1_SCHPO]] Together with tsc2, required for uptake of various amino-acids from the environment and for proper conjugation. Involved in induction of gene expression of permeases and genes required for meiosis upon nitrogen starvation. May act as a GTPase-activating protein (GAP) for the small GTPase rhb1.<ref>PMID:12136010</ref> <ref>PMID:14718525</ref> <ref>PMID:16624901</ref> | ||
<div style="background-color:#fffaf0;"> | |||
== Publication Abstract from PubMed == | |||
Tuberous sclerosis complex is a disease caused by mutations in two tumor-suppressor genes, TSC1 and TSC2. The TSC1 protein, also known as hamartin, has a critical role in controlling mTOR signalling. TSC1 does not bear apparent sequence homology with other proteins. Here we show that the N-terminal half of yeast TSC1 forms a protease-resistant domain, which is evolutionarily conserved. The crystal structure of this yeast TSC1 core domain shows that it contains a pseudo-HEAT repeat fold with its C-terminal end capped by a helical subdomain. This allows us to model the three-dimensional structure of the human TSC1 N-terminal domain (TSC1-NTD), which anchors essentially all pathogenic TSC1 missense mutations found in tuberous sclerosis patients. Interestingly, most pathogenic mutations map inside of the folded TSC1-NTD structure, whereas most non-pathogenic variants are on the structural surface. This indicates that the disruption of the TSC1-NTD globular structure is a major cause of tuberous sclerosis. | |||
Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations.,Sun W, Zhu YJ, Wang Z, Zhong Q, Gao F, Lou J, Gong W, Xu W Nat Commun. 2013 Jul 16;4:2135. doi: 10.1038/ncomms3135. PMID:23857276<ref>PMID:23857276</ref> | |||
== | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | ||
</div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Schizosaccharomyces pombe 972h-]] | [[Category: Schizosaccharomyces pombe 972h-]] | ||
[[Category: Gao, F | [[Category: Gao, F]] | ||
[[Category: Gong, W M | [[Category: Gong, W M]] | ||
[[Category: Lou, J Z | [[Category: Lou, J Z]] | ||
[[Category: Sun, W | [[Category: Sun, W]] | ||
[[Category: Wang, Z Z | [[Category: Wang, Z Z]] | ||
[[Category: Xu, W Q | [[Category: Xu, W Q]] | ||
[[Category: Zhong, Q | [[Category: Zhong, Q]] | ||
[[Category: Zhu, Y | [[Category: Zhu, Y]] | ||
[[Category: Heat repeat]] | [[Category: Heat repeat]] | ||
[[Category: Immune system]] | [[Category: Immune system]] | ||
[[Category: Tumor suppressor]] | [[Category: Tumor suppressor]] | ||