2ej4

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{{STRUCTURE_2ej4| PDB=2ej4 | SCENE= }}
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==Functional and structural basis of nuclear localization signal in ZIC3 zinc finger domain: a role of conserved tryptophan residue in the zinc finger domain==
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===Functional and structural basis of nuclear localization signal in ZIC3 zinc finger domain: a role of conserved tryptophan residue in the zinc finger domain===
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<StructureSection load='2ej4' size='340' side='right' caption='[[2ej4]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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== Structural highlights ==
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==Disease==
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<table><tr><td colspan='2'>[[2ej4]] 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=2EJ4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EJ4 FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/ZIC3_HUMAN ZIC3_HUMAN]] Defects in ZIC3 are the cause of visceral heterotaxy X-linked type 1 (HTX1) [MIM:[http://omim.org/entry/306955 306955]]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy X-linked type 1 include dextrocardia, corrected transposition of great arteries, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis, situs inversus viscerum, and asplenia and/or polysplenia.<ref>PMID:17764085</ref><ref>PMID:18716025</ref><ref>PMID:9354794</ref><ref>PMID:14681828</ref><ref>PMID:17295247</ref> Defects in ZIC3 are a cause of VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:[http://omim.org/entry/314390 314390]]. A syndrome characterized by vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb). Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.<ref>PMID:20452998</ref> Defects in ZIC3 are the cause of congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:[http://omim.org/entry/306955 306955]]. A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD1 also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.<ref>PMID:17764085</ref><ref>PMID:14681828</ref>
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</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene><br>
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<tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ZIC3 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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==Function==
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<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=2ej4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ej4 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ej4 RCSB], [http://www.ebi.ac.uk/pdbsum/2ej4 PDBsum], [http://www.topsan.org/Proteins/RSGI/2ej4 TOPSAN]</span></td></tr>
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[[http://www.uniprot.org/uniprot/ZIC3_HUMAN ZIC3_HUMAN]] Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.<ref>PMID:17764085</ref>
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<table>
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== Disease ==
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==About this Structure==
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[[http://www.uniprot.org/uniprot/ZIC3_HUMAN ZIC3_HUMAN]] Defects in ZIC3 are the cause of visceral heterotaxy X-linked type 1 (HTX1) [MIM:[http://omim.org/entry/306955 306955]]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy X-linked type 1 include dextrocardia, corrected transposition of great arteries, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis, situs inversus viscerum, and asplenia and/or polysplenia.<ref>PMID:17764085</ref> <ref>PMID:18716025</ref> <ref>PMID:9354794</ref> <ref>PMID:14681828</ref> <ref>PMID:17295247</ref> Defects in ZIC3 are a cause of VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:[http://omim.org/entry/314390 314390]]. A syndrome characterized by vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb). Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.<ref>PMID:20452998</ref> Defects in ZIC3 are the cause of congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:[http://omim.org/entry/306955 306955]]. A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD1 also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.<ref>PMID:17764085</ref> <ref>PMID:14681828</ref>
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[[2ej4]] 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=2EJ4 OCA].
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== Function ==
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[[http://www.uniprot.org/uniprot/ZIC3_HUMAN ZIC3_HUMAN]] Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.<ref>PMID:17764085</ref>
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==Reference==
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== Evolutionary Conservation ==
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<references group="xtra"/><references/>
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ej/2ej4_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Inoue, M.]]
[[Category: Inoue, M.]]

Revision as of 01:16, 30 September 2014

Functional and structural basis of nuclear localization signal in ZIC3 zinc finger domain: a role of conserved tryptophan residue in the zinc finger domain

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