View source for 2css


==Solution structure of the PDZ domain of human KIAA0340 protein==
<StructureSection load='2css' size='340' side='right'caption='[[2css]]' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[2css]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2CSS OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2CSS FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2css FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2css OCA], [https://pdbe.org/2css PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2css RCSB], [https://www.ebi.ac.uk/pdbsum/2css PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2css ProSAT], [https://www.topsan.org/Proteins/RSGI/2css TOPSAN]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/RIMS1_HUMAN RIMS1_HUMAN] Defects in RIMS1 may be a cause of cone-rod dystrophy type 7 (CORD7) [MIM:[https://omim.org/entry/603649 603649]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.<ref>PMID:12659814</ref> 
== Function ==
[https://www.uniprot.org/uniprot/RIMS1_HUMAN RIMS1_HUMAN] Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity).
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cs/2css_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</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=2css ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Hayashi F]]
[[Category: Inoue K]]
[[Category: Qin X-R]]
[[Category: Yokoyama S]]