6y31: Difference between revisions
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==NG domain of human SRP54 T117 deletion mutant== | ==NG domain of human SRP54 T117 deletion mutant== | ||
<StructureSection load='6y31' size='340' side='right'caption='[[6y31]]' scene=''> | <StructureSection load='6y31' size='340' side='right'caption='[[6y31]], [[Resolution|resolution]] 4.00Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6Y31 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=6Y31 FirstGlance]. <br> | <table><tr><td colspan='2'>[[6y31]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6Y31 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=6Y31 FirstGlance]. <br> | ||
</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=6y31 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6y31 OCA], [http://pdbe.org/6y31 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6y31 RCSB], [http://www.ebi.ac.uk/pdbsum/6y31 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6y31 ProSAT]</span></td></tr> | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SRP54 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=6y31 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6y31 OCA], [http://pdbe.org/6y31 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6y31 RCSB], [http://www.ebi.ac.uk/pdbsum/6y31 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6y31 ProSAT]</span></td></tr> | |||
</table> | </table> | ||
== Function == | |||
[[http://www.uniprot.org/uniprot/SRP54_HUMAN SRP54_HUMAN]] Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). | |||
<div style="background-color:#fffaf0;"> | |||
== Publication Abstract from PubMed == | |||
The SRP54 GTPase is a key component of co-translational protein targeting by the signal recognition particle (SRP). Point mutations in SRP54 have been recently shown to lead to a form of severe congenital neutropenia displaying symptoms overlapping with those of Shwachman-Diamond syndrome. The phenotype includes severe neutropenia, exocrine pancreatic deficiency, and neurodevelopmental as well as skeletal disorders. Using a combination of X-ray crystallography, hydrogen-deuterium exchange coupled to mass spectrometry and complementary biochemical and biophysical methods, we reveal extensive structural defects in three disease-causing SRP54 variants resulting in critical protein destabilization. GTP binding is mostly abolished as a consequence of an altered GTPase core. The mutations located in conserved sequence fingerprints of SRP54 eliminate targeting complex formation with the SRP receptor as demonstrated in yeast and human cells. These specific defects critically influence the entire SRP pathway, thereby causing this life-threatening disease. | |||
Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.,Juaire KD, Lapouge K, Becker MMM, Kotova I, Michelhans M, Carapito R, Wild K, Bahram S, Sinning I Structure. 2020 Oct 13. pii: S0969-2126(20)30333-6. doi:, 10.1016/j.str.2020.09.008. PMID:33053321<ref>PMID:33053321</ref> | |||
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | |||
</div> | |||
<div class="pdbe-citations 6y31" style="background-color:#fffaf0;"></div> | |||
==See Also== | |||
*[[Signal recognition particle protein|Signal recognition particle protein]] | |||
== References == | |||
<references/> | |||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: Human]] | |||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Bahram S]] | [[Category: Bahram, S]] | ||
[[Category: Becker | [[Category: Becker, M M.M]] | ||
[[Category: Carapito R]] | [[Category: Carapito, R]] | ||
[[Category: Haas M]] | [[Category: Haas, M]] | ||
[[Category: Juaire | [[Category: Juaire, K D]] | ||
[[Category: Kotova I]] | [[Category: Kotova, I]] | ||
[[Category: Lapouge K]] | [[Category: Lapouge, K]] | ||
[[Category: Sinning I]] | [[Category: Sinning, I]] | ||
[[Category: Wild K]] | [[Category: Wild, K]] | ||
[[Category: Disease mutant]] | |||
[[Category: Protein translocation]] | |||
[[Category: Rna binding protein]] | |||
[[Category: Severe congenital neutropenia]] | |||
[[Category: Srp54 ng domain]] | |||