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2edp

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Revision as of 17:24, 11 September 2015

Solution structure of the PDZ domain from human Shroom family member 4

Structural highlights

2edp is a 1 chain structure with sequence from Human. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Gene:	KIAA1202 (HUMAN)
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, TOPSAN

Disease

[SHRM4_HUMAN] Defects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:300434]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis.^[1] Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).

Function

[SHRM4_HUMAN] Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity).^[2]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet. 2006 Jan;118(5):578-90. Epub 2005 Oct 26. PMID:16249884 doi:10.1007/s00439-005-0072-2
↑ Dietz ML, Bernaciak TM, Vendetti F, Kielec JM, Hildebrand JD. Differential actin-dependent localization modulates the evolutionarily conserved activity of Shroom family proteins. J Biol Chem. 2006 Jul 21;281(29):20542-54. Epub 2006 May 8. PMID:16684770 doi:10.1074/jbc.M512463200

1 Structural highlights
2 Disease
3 Function
4 Evolutionary Conservation
5 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2edp"

@@ Line 2: / Line 2: @@
 <StructureSection load='2edp' size='340' side='right' caption='[[2edp]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[2edp]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EDP OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EDP FirstGlance]. <br>
+<table><tr><td colspan='2'>[[2edp]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EDP OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EDP FirstGlance]. <br>
-</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA1202 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
+</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA1202 ([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://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2edp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edp OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2edp RCSB], [http://www.ebi.ac.uk/pdbsum/2edp PDBsum], [http://www.topsan.org/Proteins/RSGI/2edp TOPSAN]</span></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=2edp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edp OCA], [http://pdbe.org/2edp PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2edp RCSB], [http://www.ebi.ac.uk/pdbsum/2edp PDBsum], [http://www.topsan.org/Proteins/RSGI/2edp TOPSAN]</span></td></tr>
 </table>
 == Disease ==
@@ Line 24: / Line 24: @@
 __TOC__
 </StructureSection>
-[[Category: Homo sapiens]]
+[[Category: Human]]
 [[Category: Endo, H]]
 [[Category: Hayashi, F]]

2edp

From Proteopedia

Revision as of 17:24, 11 September 2015

Solution structure of the PDZ domain from human Shroom family member 4

Structural highlights

Disease

Function

Evolutionary Conservation

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

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