2qnd

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Line 1: Line 1:
[[Image:2qnd.jpg|left|200px]]
[[Image:2qnd.jpg|left|200px]]
-
{{Structure
+
<!--
-
|PDB= 2qnd |SIZE=350|CAPTION= <scene name='initialview01'>2qnd</scene>, resolution 1.90&Aring;
+
The line below this paragraph, containing "STRUCTURE_2qnd", creates the "Structure Box" on the page.
-
|SITE=
+
You may change the PDB parameter (which sets the PDB file loaded into the applet)
-
|LIGAND= <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>, <scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene>
+
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-
|ACTIVITY=
+
or leave the SCENE parameter empty for the default display.
-
|GENE= FMR1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
+
-->
-
|DOMAIN=
+
{{STRUCTURE_2qnd| PDB=2qnd | SCENE= }}
-
|RELATEDENTRY=
+
-
|RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2qnd FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qnd OCA], [http://www.ebi.ac.uk/pdbsum/2qnd PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=2qnd RCSB]</span>
+
-
}}
+
'''Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein'''
'''Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein'''
Line 30: Line 27:
[[Category: Regan, L.]]
[[Category: Regan, L.]]
[[Category: Valverde, R.]]
[[Category: Valverde, R.]]
-
[[Category: eukaryotic kh domain]]
+
[[Category: Eukaryotic kh domain]]
-
[[Category: fmrp]]
+
[[Category: Fmrp]]
-
[[Category: fragile x mental retardation protein]]
+
[[Category: Fragile x mental retardation protein]]
-
[[Category: kh domain]]
+
[[Category: Kh domain]]
-
[[Category: rna binding protein]]
+
[[Category: Rna binding protein]]
-
[[Category: tandem kh domain]]
+
[[Category: Tandem kh domain]]
-
[[Category: type i kh domain]]
+
[[Category: Type i kh domain]]
-
 
+
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun May 4 15:14:26 2008''
-
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Mar 31 04:51:14 2008''
+

Revision as of 12:14, 4 May 2008

Image:2qnd.jpg

Template:STRUCTURE 2qnd

Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein


Contents

Overview

Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome. We show that the Ile304Asn mutation both perturbs the structure and destabilizes the protein.

Disease

Known disease associated with this structure: Fragile X syndrome OMIM:[309550], Fragile X tremor/ataxia syndrome OMIM:[309550]

About this Structure

2QND is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein., Valverde R, Pozdnyakova I, Kajander T, Venkatraman J, Regan L, Structure. 2007 Sep;15(9):1090-8. PMID:17850748 Page seeded by OCA on Sun May 4 15:14:26 2008

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2qnd"
Personal tools