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{{STRUCTURE_2cry|  PDB=2cry  |  SCENE=  }}
===Solution structure of the fifth ig-like domain of human kin of IRRE like 3===


==Disease==
==Solution structure of the fifth ig-like domain of human kin of IRRE like 3==
[[http://www.uniprot.org/uniprot/KIRR3_HUMAN KIRR3_HUMAN]] Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).  Defects in KIRREL3 are the cause of mental retardation autosomal dominant type 4 (MRD4) [MIM:[http://omim.org/entry/612581 612581]]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:19012874</ref>  
<StructureSection load='2cry' size='340' side='right'caption='[[2cry]]' scene=''>
 
== Structural highlights ==
==Function==
<table><tr><td colspan='2'>[[2cry]] 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=2CRY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2CRY FirstGlance]. <br>
[[http://www.uniprot.org/uniprot/KIRR3_HUMAN KIRR3_HUMAN]] Could be involved in the hematopoietic supportive capacity of stroma cells (By similarity).  
</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=2cry FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cry OCA], [https://pdbe.org/2cry PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2cry RCSB], [https://www.ebi.ac.uk/pdbsum/2cry PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2cry ProSAT], [https://www.topsan.org/Proteins/RSGI/2cry TOPSAN]</span></td></tr>
==About this Structure==
</table>
[[2cry]] 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=2CRY OCA].  
== Disease ==
 
[https://www.uniprot.org/uniprot/KIRR3_HUMAN KIRR3_HUMAN] Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).  Defects in KIRREL3 are the cause of mental retardation autosomal dominant type 4 (MRD4) [MIM:[https://omim.org/entry/612581 612581]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:19012874</ref>  
==Reference==
== Function ==
<references group="xtra"/><references/>
[https://www.uniprot.org/uniprot/KIRR3_HUMAN KIRR3_HUMAN] Could be involved in the hematopoietic supportive capacity of stroma cells (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/cr/2cry_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=2cry ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Hayashi, F.]]
[[Category: Large Structures]]
[[Category: Kurosaki, C.]]
[[Category: Hayashi F]]
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
[[Category: Kurosaki C]]
[[Category: Yokoyama, S.]]
[[Category: Yokoyama S]]
[[Category: Yoshida, M.]]
[[Category: Yoshida M]]
[[Category: Ig fold]]
[[Category: Immune system]]
[[Category: Kin of irregular chiasm-like protein 3]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nephrin-like 2]]
[[Category: Nppsfa]]
[[Category: Riken structural genomics/proteomics initiative]]
[[Category: Rsgi]]
[[Category: Structural genomic]]

Latest revision as of 11:29, 22 May 2024

Solution structure of the fifth ig-like domain of human kin of IRRE like 3

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