2jnj
From Proteopedia
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==Solution structure of the p8 TFIIH subunit== | ==Solution structure of the p8 TFIIH subunit== | ||
| - | <StructureSection load='2jnj' size='340' side='right' caption='[[2jnj | + | <StructureSection load='2jnj' size='340' side='right'caption='[[2jnj]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2jnj]] is a 2 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2JNJ FirstGlance]. <br> |
| - | </td></tr><tr><td class="sblockLbl"><b>[[ | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [https://pdbe.org/2jnj PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [https://www.ebi.ac.uk/pdbsum/2jnj PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2jnj ProSAT]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
| - | [ | + | [https://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[https://omim.org/entry/601675 601675]. TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. |
== Function == | == Function == | ||
| - | [ | + | [https://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN] Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.<ref>PMID:15220921</ref> |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Check<jmol> | Check<jmol> | ||
<jmolCheckbox> | <jmolCheckbox> | ||
| - | <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/jn/2jnj_consurf.spt"</scriptWhenChecked> | + | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/jn/2jnj_consurf.spt"</scriptWhenChecked> |
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
</jmolCheckbox> | </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/ | + | </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=2jnj ConSurf]. |
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | ||
</div> | </div> | ||
| + | <div class="pdbe-citations 2jnj" style="background-color:#fffaf0;"></div> | ||
== References == | == References == | ||
<references/> | <references/> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Atkinson | + | [[Category: Large Structures]] |
| - | [[Category: Kieffer | + | [[Category: Atkinson RA]] |
| - | [[Category: Moras | + | [[Category: Kieffer B]] |
| - | [[Category: Poterszman | + | [[Category: Moras D]] |
| - | [[Category: Vitorino | + | [[Category: Poterszman A]] |
| - | + | [[Category: Vitorino M]] | |
| - | + | ||
Current revision
Solution structure of the p8 TFIIH subunit
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