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== | ==Solution Structure of the First Fibronectin Type III domain of human KIAA1568 Protein== | ||
<StructureSection load='1uem' size='340' side='right'caption='[[1uem]]' scene=''> | |||
== Structural highlights == | |||
== | <table><tr><td colspan='2'>[[1uem]] 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=1UEM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1UEM 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=1uem FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1uem OCA], [https://pdbe.org/1uem PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1uem RCSB], [https://www.ebi.ac.uk/pdbsum/1uem PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1uem ProSAT], [https://www.topsan.org/Proteins/RSGI/1uem TOPSAN]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[https://www.uniprot.org/uniprot/ROBO2_HUMAN ROBO2_HUMAN] Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) [MIM:[https://omim.org/entry/610878 610878]. VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.<ref>PMID:17357069</ref> Note=A chromosomal aberration involving ROBO2 is a cause of multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with PCDH11Y. This translocation disrupts ROBO2 and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/ROBO2_HUMAN ROBO2_HUMAN] Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. | |||
== 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/ue/1uem_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=1uem ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Inoue | [[Category: Inoue M]] | ||
[[Category: Kigawa | [[Category: Kigawa T]] | ||
[[Category: Koshiba | [[Category: Koshiba S]] | ||
[[Category: Li | [[Category: Li H]] | ||
[[Category: Tochio N]] | |||
[[Category: Tochio | [[Category: Yokoyama S]] | ||
[[Category: Yokoyama | |||
Latest revision as of 02:51, 28 December 2023
Solution Structure of the First Fibronectin Type III domain of human KIAA1568 ProteinSolution Structure of the First Fibronectin Type III domain of human KIAA1568 Protein
Structural highlights
DiseaseROBO2_HUMAN Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) [MIM:610878. VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.[1] Note=A chromosomal aberration involving ROBO2 is a cause of multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with PCDH11Y. This translocation disrupts ROBO2 and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro. FunctionROBO2_HUMAN Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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