View source for 2yrb


==Solution structure of the first C2 domain from human KIAA1005 protein==
<StructureSection load='2yrb' size='340' side='right'caption='[[2yrb]]' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[2yrb]] 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=2YRB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2YRB 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=2yrb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2yrb OCA], [https://pdbe.org/2yrb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2yrb RCSB], [https://www.ebi.ac.uk/pdbsum/2yrb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2yrb ProSAT], [https://www.topsan.org/Proteins/RSGI/2yrb TOPSAN]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/FTM_HUMAN FTM_HUMAN] Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome.  Defects in RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7) [MIM:[https://omim.org/entry/611560 611560]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.<ref>PMID:17558407</ref> <ref>PMID:17558409</ref>   Defects in RPGRIP1L are the cause of Meckel syndrome type 5 (MKS5) [MIM:[https://omim.org/entry/611561 611561]. MKS is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.<ref>PMID:19430481</ref> <ref>PMID:17558409</ref>   Defects in RPGRIP1L are a cause of COACH syndrome (COACHS) [MIM:[https://omim.org/entry/216360 216360]. It is a disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.<ref>PMID:19574260</ref> 
== Function ==
[https://www.uniprot.org/uniprot/FTM_HUMAN FTM_HUMAN] Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity).<ref>PMID:19464661</ref> 
== 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/yr/2yrb_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=2yrb ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Hayashi F]]
[[Category: Nagashima T]]
[[Category: Yokoyama S]]