2l1g: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
==RDC refined solution structure of the THAP zinc finger of THAP1 in complex with its 16bp RRM1 DNA target== | |||
<StructureSection load='2l1g' size='340' side='right' caption='[[2l1g]], [[NMR_Ensembles_of_Models | 17 NMR models]]' scene=''> | |||
== Structural highlights == | |||
==Disease== | <table><tr><td colspan='2'>[[2l1g]] is a 3 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=2L1G OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2L1G FirstGlance]. <br> | ||
[[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:[http://omim.org/entry/602629 602629]]. DYT6 is a primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.[:]<ref>PMID:19345147</ref><ref>PMID:19908325</ref><ref>PMID:19908320</ref><ref>PMID:19182804</ref><ref>PMID:20629133</ref><ref>PMID:20669277</ref><ref>PMID:20687191</ref><ref>PMID:20083799</ref><ref>PMID:20211909</ref><ref>PMID:21847143</ref><ref>PMID:20825472</ref><ref>PMID:21800139</ref><ref>PMID:21839475</ref><ref>PMID:21425335</ref><ref>PMID:21425341</ref><ref>PMID:21110056</ref><ref>PMID:22377579</ref> | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr> | ||
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2jtg|2jtg]], [[2ko0|2ko0]]</td></tr> | |||
==Function== | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2l1g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2l1g OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2l1g RCSB], [http://www.ebi.ac.uk/pdbsum/2l1g PDBsum]</span></td></tr> | ||
[[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.<ref>PMID:12717420</ref><ref>PMID:17003378</ref><ref>PMID:20200153</ref> | </table> | ||
== Disease == | |||
== | [[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:[http://omim.org/entry/602629 602629]]. DYT6 is a primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.[:]<ref>PMID:19345147</ref> <ref>PMID:19908325</ref> <ref>PMID:19908320</ref> <ref>PMID:19182804</ref> <ref>PMID:20629133</ref> <ref>PMID:20669277</ref> <ref>PMID:20687191</ref> <ref>PMID:20083799</ref> <ref>PMID:20211909</ref> <ref>PMID:21847143</ref> <ref>PMID:20825472</ref> <ref>PMID:21800139</ref> <ref>PMID:21839475</ref> <ref>PMID:21425335</ref> <ref>PMID:21425341</ref> <ref>PMID:21110056</ref> <ref>PMID:22377579</ref> | ||
[[ | == Function == | ||
[[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.<ref>PMID:12717420</ref> <ref>PMID:17003378</ref> <ref>PMID:20200153</ref> | |||
== | == Evolutionary Conservation == | ||
<references | [[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/l1/2l1g_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/chain_selection.php?pdb_ID=2ata ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Campagne, S | [[Category: Campagne, S]] | ||
[[Category: Gervais, V | [[Category: Gervais, V]] | ||
[[Category: Milon, A | [[Category: Milon, A]] | ||
[[Category: Saurel, O | [[Category: Saurel, O]] | ||
[[Category: Ccch]] | [[Category: Ccch]] | ||
[[Category: Dna binding domain]] | [[Category: Dna binding domain]] | ||
