2edp
From Proteopedia
(Difference between revisions)
| Line 1: | Line 1: | ||
==Solution structure of the PDZ domain from human Shroom family member 4== | ==Solution structure of the PDZ domain from human Shroom family member 4== | ||
| - | <StructureSection load='2edp' size='340' side='right' caption='[[2edp]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2edp' size='340' side='right'caption='[[2edp]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2edp]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2edp]] is a 1 chain structure with sequence from [https://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 [https://proteopedia.org/fgij/fg.htm?mol=2EDP FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA1202 ([ | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA1202 ([https://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'>[ | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2edp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edp OCA], [https://pdbe.org/2edp PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2edp RCSB], [https://www.ebi.ac.uk/pdbsum/2edp PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2edp ProSAT], [https://www.topsan.org/Proteins/RSGI/2edp TOPSAN]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
| - | [[ | + | [[https://www.uniprot.org/uniprot/SHRM4_HUMAN SHRM4_HUMAN]] Defects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:[https://omim.org/entry/300434 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.<ref>PMID:16249884</ref> 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 == | == Function == | ||
| - | [[ | + | [[https://www.uniprot.org/uniprot/SHRM4_HUMAN 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).<ref>PMID:16684770</ref> |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
| Line 26: | Line 26: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Human]] | [[Category: Human]] | ||
| + | [[Category: Large Structures]] | ||
[[Category: Endo, H]] | [[Category: Endo, H]] | ||
[[Category: Hayashi, F]] | [[Category: Hayashi, F]] | ||
Revision as of 12:01, 10 February 2021
Solution structure of the PDZ domain from human Shroom family member 4
| |||||||||||
