2cry: Difference between revisions
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==Solution structure of the fifth ig-like domain of human kin of IRRE like 3== | |||
<StructureSection load='2cry' size='340' side='right' caption='[[2cry]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | |||
== Structural highlights == | |||
==Disease== | <table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CRY FirstGlance]. <br> | ||
[[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> | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIRREL3, KIAA1867, NEPH2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | ||
<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2cry FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cry OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2cry RCSB], [http://www.ebi.ac.uk/pdbsum/2cry PDBsum], [http://www.topsan.org/Proteins/RSGI/2cry TOPSAN]</span></td></tr> | |||
==Function== | <table> | ||
== Disease == | |||
[[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> | |||
== Function == | |||
[[http://www.uniprot.org/uniprot/KIRR3_HUMAN KIRR3_HUMAN]] Could be involved in the hematopoietic supportive capacity of stroma cells (By similarity). | [[http://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> | ||
<references | <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/chain_selection.php?pdb_ID=2ata ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
Revision as of 00:31, 30 September 2014
Solution structure of the fifth ig-like domain of human kin of IRRE like 3
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Proteopedia Page Contributors and Editors (what is this?)
Categories:
- Homo sapiens
- Hayashi, F.
- Kurosaki, C.
- RSGI, RIKEN Structural Genomics/Proteomics Initiative.
- Yokoyama, S.
- Yoshida, M.
- Ig fold
- Immune system
- Kin of irregular chiasm-like protein 3
- National project on protein structural and functional analyse
- Nephrin-like 2
- Nppsfa
- Riken structural genomics/proteomics initiative
- Rsgi
- Structural genomic
