2l1g

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<StructureSection load='2l1g' size='340' side='right'caption='[[2l1g]], [[NMR_Ensembles_of_Models | 17 NMR models]]' scene=''>
<StructureSection load='2l1g' size='340' side='right'caption='[[2l1g]], [[NMR_Ensembles_of_Models | 17 NMR models]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[2l1g]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. 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://proteopedia.org/fgij/fg.htm?mol=2L1G FirstGlance]. <br>
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<table><tr><td colspan='2'>[[2l1g]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. 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 [https://proteopedia.org/fgij/fg.htm?mol=2L1G FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
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<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2jtg|2jtg]], [[2ko0|2ko0]]</td></tr>
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<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2jtg|2jtg]], [[2ko0|2ko0]]</div></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=2l1g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2l1g OCA], [http://pdbe.org/2l1g PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2l1g RCSB], [http://www.ebi.ac.uk/pdbsum/2l1g PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2l1g ProSAT]</span></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2l1g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2l1g OCA], [https://pdbe.org/2l1g PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2l1g RCSB], [https://www.ebi.ac.uk/pdbsum/2l1g PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2l1g ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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[[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>
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[[https://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:[https://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 ==
== Function ==
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[[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>
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[[https://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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]

Revision as of 07:37, 2 February 2022

RDC refined solution structure of the THAP zinc finger of THAP1 in complex with its 16bp RRM1 DNA target

PDB ID 2l1g

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