2bx6

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[[Image:2bx6.gif|left|200px]]
 
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{{Structure
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==Crystal Structure of the human Retinitis Pigmentosa protein 2 (RP2)==
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|PDB= 2bx6 |SIZE=350|CAPTION= <scene name='initialview01'>2bx6</scene>, resolution 2.1&Aring;
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<StructureSection load='2bx6' size='340' side='right'caption='[[2bx6]], [[Resolution|resolution]] 2.10&Aring;' scene=''>
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|SITE= <scene name='pdbsite=AC1:So4+Binding+Site+For+Chain+A'>AC1</scene>
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== Structural highlights ==
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|LIGAND= <scene name='pdbligand=SO4:SULFATE ION'>SO4</scene>
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<table><tr><td colspan='2'>[[2bx6]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2BX6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2BX6 FirstGlance]. <br>
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|ACTIVITY=
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.1&#8491;</td></tr>
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|GENE=
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
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}}
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2bx6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2bx6 OCA], [https://pdbe.org/2bx6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2bx6 RCSB], [https://www.ebi.ac.uk/pdbsum/2bx6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2bx6 ProSAT]</span></td></tr>
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</table>
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'''CRYSTAL STRUCTURE OF THE HUMAN RETINITIS PIGMENTOSA PROTEIN 2 (RP2)'''
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== Disease ==
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[https://www.uniprot.org/uniprot/XRP2_HUMAN XRP2_HUMAN] Defects in RP2 are the cause of retinitis pigmentosa type 2 (RP2) [MIM:[https://omim.org/entry/312600 312600]; also known as X-linked retinitis pigmentosa 2 (XLRP-2). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.<ref>PMID:11847227</ref> <ref>PMID:16472755</ref> <ref>PMID:10942419</ref> <ref>PMID:9697692</ref> <ref>PMID:10090907</ref> <ref>PMID:10520237</ref> <ref>PMID:10634633</ref> <ref>PMID:10937588</ref> <ref>PMID:11462235</ref> <ref>PMID:11992260</ref> <ref>PMID:14564670</ref> <ref>PMID:12657579</ref> <ref>PMID:22334370</ref>
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== Function ==
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==Overview==
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[https://www.uniprot.org/uniprot/XRP2_HUMAN XRP2_HUMAN] Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins.<ref>PMID:11847227</ref> <ref>PMID:20106869</ref> <ref>PMID:22085962</ref> <ref>PMID:18376416</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/bx/2bx6_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2bx6 ConSurf].
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<div style="clear:both"></div>
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<div style="background-color:#fffaf0;">
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== Publication Abstract from PubMed ==
The crystal structure of human retinitis pigmentosa 2 protein (RP2) was solved to 2.1 angstroms resolution. It consists of an N-terminal beta helix and a C-terminal ferredoxin-like alpha/beta domain. RP2 is functionally and structurally related to the tubulin-specific chaperone cofactor C. Seven of nine known RP2 missense mutations identified in patients are located in the beta helix domain, and most of them cluster to the hydrophobic core and are likely to destabilize the protein. Two residues, Glu138 and the catalytically important Arg118, are solvent-exposed and form a salt bridge, indicating that Glu138 might be critical for positioning Arg118 for catalysis. RP2 is a specific effector protein of Arl3. The N-terminal 34 residues and beta helix domain of RP2 are required for this interaction. The abilitities of RP2 to bind Arl3 and cause retinitis pigmentosa seem to be correlated, since both the R118H and E138G mutants show a drastically reduced affinity to Arl3.
The crystal structure of human retinitis pigmentosa 2 protein (RP2) was solved to 2.1 angstroms resolution. It consists of an N-terminal beta helix and a C-terminal ferredoxin-like alpha/beta domain. RP2 is functionally and structurally related to the tubulin-specific chaperone cofactor C. Seven of nine known RP2 missense mutations identified in patients are located in the beta helix domain, and most of them cluster to the hydrophobic core and are likely to destabilize the protein. Two residues, Glu138 and the catalytically important Arg118, are solvent-exposed and form a salt bridge, indicating that Glu138 might be critical for positioning Arg118 for catalysis. RP2 is a specific effector protein of Arl3. The N-terminal 34 residues and beta helix domain of RP2 are required for this interaction. The abilitities of RP2 to bind Arl3 and cause retinitis pigmentosa seem to be correlated, since both the R118H and E138G mutants show a drastically reduced affinity to Arl3.
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==Disease==
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Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.,Kuhnel K, Veltel S, Schlichting I, Wittinghofer A Structure. 2006 Feb;14(2):367-78. PMID:16472755<ref>PMID:16472755</ref>
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Known diseases associated with this structure: Retinitis pigmentosa-2 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312600 312600]], Xp11.3 deletion syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312600 312600]]
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==About this Structure==
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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2BX6 is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2BX6 OCA].
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</div>
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<div class="pdbe-citations 2bx6" style="background-color:#fffaf0;"></div>
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==Reference==
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== References ==
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Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3., Kuhnel K, Veltel S, Schlichting I, Wittinghofer A, Structure. 2006 Feb;14(2):367-78. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/16472755 16472755]
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Single protein]]
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[[Category: Large Structures]]
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[[Category: Kuhnel, K.]]
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[[Category: Kuhnel K]]
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[[Category: Schlichting, I.]]
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[[Category: Schlichting I]]
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[[Category: Veltel, S.]]
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[[Category: Veltel S]]
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[[Category: Wittinghofer, A.]]
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[[Category: Wittinghofer A]]
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[[Category: SO4]]
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[[Category: retinitis pigmentosa]]
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[[Category: sensory transduction]]
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[[Category: vision]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 16:07:53 2008''
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Current revision

Crystal Structure of the human Retinitis Pigmentosa protein 2 (RP2)

PDB ID 2bx6

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