2jnj - Revision history

OCA at 10:08, 20 December 2023

OCA — Wed, 20 Dec 2023 10:08:22 GMT

←Older revision		Revision as of 10:08, 20 December 2023
Line 1:		Line 1:

	==Solution structure of the p8 TFIIH subunit==		==Solution structure of the p8 TFIIH subunit==
-	<StructureSection load='2jnj' size='340' side='right'caption='[[2jnj~~]], [[NMR_Ensembles_of_Models \| 10 NMR models~~]]' scene=''>	+	<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 [https://en.wikipedia.org/wiki/~~Human Human~~]. 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>	+	<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 id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat"~~>GTF2H5, TTDA ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&~~id=~~9606 HUMAN])~~</td></tr>	+	</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=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>		<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.	+	[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>	+	[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]]
Line 34:		Line 34:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Atkinson~~, R A~~]]	+	[[Category: Atkinson RA]]
-	[[Category: Kieffer, B]]	+	[[Category: Kieffer B]]
-	[[Category: Moras, D]]	+	[[Category: Moras D]]
-	[[Category: Poterszman, A]]	+	[[Category: Poterszman A]]
-	~~[[Category: SPINE-2, Structural Proteomics in Europe 2~~]]	+	[[Category: Vitorino M]]
-	[[Category: Vitorino, M]]	+
-	~~[[Category: Protein]]~~	+
-	~~[[Category: Spine-2]]~~	+
-	~~[[Category: Structural genomic]]~~	+
-	~~[[Category: Structural proteomics in europe 2]]~~	+
-	~~[[Category: Transcription~~]]	+

OCA at 07:12, 9 March 2022

OCA — Wed, 09 Mar 2022 07:12:17 GMT

←Older revision		Revision as of 07:12, 9 March 2022
Line 40:		Line 40:
	[[Category: Moras, D]]		[[Category: Moras, D]]
	[[Category: Poterszman, A]]		[[Category: Poterszman, A]]
		+	[[Category: SPINE-2, Structural Proteomics in Europe 2]]
	[[Category: Vitorino, M]]		[[Category: Vitorino, M]]
	[[Category: Protein]]		[[Category: Protein]]
		+	[[Category: Spine-2]]
		+	[[Category: Structural genomic]]
		+	[[Category: Structural proteomics in europe 2]]
	[[Category: Transcription]]		[[Category: Transcription]]

OCA at 07:52, 7 April 2021

OCA — Wed, 07 Apr 2021 07:52:01 GMT

←Older revision		Revision as of 07:52, 7 April 2021
Line 1:		Line 1:

	==Solution structure of the p8 TFIIH subunit==		==Solution structure of the p8 TFIIH subunit==
-	<StructureSection load='2jnj' size='340' side='right' caption='[[2jnj]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>	+	<StructureSection load='2jnj' size='340' side='right'caption='[[2jnj]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2jnj]] is a 2 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=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 id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [~~http~~://pdbe.org/2jnj PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2jnj PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2jnj ProSAT]</span></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=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 ==
-	[[~~http~~://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[~~http~~://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.	+	[[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 ==
-	[[~~http~~://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>	+	[[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]]
Line 35:		Line 35:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Atkinson, R A]]		[[Category: Atkinson, R A]]
	[[Category: Kieffer, B]]		[[Category: Kieffer, B]]

OCA at 07:18, 11 July 2018

OCA — Wed, 11 Jul 2018 07:18:09 GMT

←Older revision		Revision as of 07:18, 11 July 2018
Line 1:		Line 1:
		+
	==Solution structure of the p8 TFIIH subunit==		==Solution structure of the p8 TFIIH subunit==
	<StructureSection load='2jnj' size='340' side='right' caption='[[2jnj]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>		<StructureSection load='2jnj' size='340' side='right' caption='[[2jnj]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>		<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [http://pdbe.org/2jnj PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [http://www.ebi.ac.uk/pdbsum/2jnj PDBsum]</span></td></tr>	+	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [http://pdbe.org/2jnj PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [http://www.ebi.ac.uk/pdbsum/2jnj PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2jnj ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 14:		Line 15:
	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>

OCA at 19:33, 9 February 2016

OCA — Tue, 09 Feb 2016 19:33:44 GMT

←Older revision		Revision as of 19:33, 9 February 2016
Line 18:		Line 18:
	<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/~~chain_selection~~.php?pdb_ID=~~2ata~~ ConSurf].	+	</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;">

OCA at 01:23, 11 September 2015

OCA — Fri, 11 Sep 2015 01:23:52 GMT

←Older revision		Revision as of 01:23, 11 September 2015
Line 2:		Line 2:
	<StructureSection load='2jnj' size='340' side='right' caption='[[2jnj]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>		<StructureSection load='2jnj' size='340' side='right' caption='[[2jnj]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [http://www.ebi.ac.uk/pdbsum/2jnj PDBsum]</span></td></tr>	+	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [http://pdbe.org/2jnj PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [http://www.ebi.ac.uk/pdbsum/2jnj PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 28:		Line 28:
	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/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Atkinson, R A]]		[[Category: Atkinson, R A]]
	[[Category: Kieffer, B]]		[[Category: Kieffer, B]]

OCA at 18:38, 19 January 2015

OCA — Mon, 19 Jan 2015 18:38:40 GMT

←Older revision		Revision as of 18:38, 19 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>		<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [http://www.ebi.ac.uk/pdbsum/2jnj PDBsum]</span></td></tr>	+	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [http://www.ebi.ac.uk/pdbsum/2jnj PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[http://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.		[[http://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[http://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.
Line 33:		Line 33:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Atkinson, R A.]]	+	[[Category: Atkinson, R A]]
-	[[Category: Kieffer, B.]]	+	[[Category: Kieffer, B]]
-	[[Category: Moras, D.]]	+	[[Category: Moras, D]]
-	[[Category: Poterszman, A.]]	+	[[Category: Poterszman, A]]
-	[[Category: Vitorino, M.]]	+	[[Category: Vitorino, M]]
	[[Category: Protein]]		[[Category: Protein]]
	[[Category: Transcription]]		[[Category: Transcription]]

OCA at 10:56, 30 September 2014

OCA — Tue, 30 Sep 2014 10:56:19 GMT

←Older revision		Revision as of 10:56, 30 September 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_2jnj\| PDB~~=2jnj \| ~~SCENE~~= }}	+	==Solution structure of the p8 TFIIH subunit==
-	===~~Solution~~ structure of the ~~p8 TFIIH subunit~~===	+	<StructureSection load='2jnj' size='340' side='right' caption='[[2jnj]], [[NMR_Ensembles_of_Models \| 10 NMR models]]' scene=''>
-	~~{{ABSTRACT_PUBMED_17350038}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[2jnj]] is a 2 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=2JNJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2JNJ FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GTF2H5, TTDA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
		+	<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=2jnj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2jnj OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2jnj RCSB], [http://www.ebi.ac.uk/pdbsum/2jnj PDBsum]</span></td></tr>
		+	<table>
		+	== Disease ==
	[[http://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[http://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.		[[http://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[http://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 ==
		+	[[http://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 ==
		+	[[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/jn/2jnj_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>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Trichothiodystrophy (TTD) is a rare hereditary multi-system disorder associated with defects in nucleotide excision repair (NER) and transcription as consequences of mutations in XPB, XPD and p8/TTD-A subunits of transcription factor IIH (TFIIH). Here, we report the solution structure of the p8/TTD-A protein, a small alpha/beta protein built around an antiparallel beta-sheet that forms a homodimer with an extended interface. In order to characterize the dimer interface, we have introduced a mutation at position 44, which destabilizes the dimeric form of the protein. We have shown that this mutation has no effect on the intrinsic ability of p8/TTD-A to stimulate NER in vitro, but affects the capacity of p8/TTD-A to restore TFIIH concentration in TTD-A fibroblasts. Point mutations found in TTD-A patients are discussed on the basis of the present structure.

-	~~==Function==~~	+	Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy.,Vitorino M, Coin F, Zlobinskaya O, Atkinson RA, Moras D, Egly JM, Poterszman A, Kieffer B J Mol Biol. 2007 Apr 27;368(2):473-80. Epub 2007 Feb 20. PMID:17350038<ref>PMID:17350038</ref>
-	~~[[http://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>	+
-		+
-	~~==About this Structure==~~	+
-	[[2jnj]] is a 2 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=2JNJ OCA].	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:017350038</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Atkinson, R A.]]		[[Category: Atkinson, R A.]]

OCA at 17:59, 24 March 2013

OCA — Sun, 24 Mar 2013 17:59:00 GMT

←Older revision		Revision as of 17:59, 24 March 2013
Line 1:		Line 1:
-	[[Image:2jnj.png\|left\|200px]]
-
	{{STRUCTURE_2jnj\| PDB=2jnj \| SCENE= }}		{{STRUCTURE_2jnj\| PDB=2jnj \| SCENE= }}
-
	===Solution structure of the p8 TFIIH subunit===		===Solution structure of the p8 TFIIH subunit===
		+	{{ABSTRACT_PUBMED_17350038}}

-	~~{{ABSTRACT_PUBMED_17350038}}~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[http://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==
		+	[[http://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>

	==About this Structure==		==About this Structure==
Line 11:		Line 13:

	==Reference==		==Reference==
-	<ref group="xtra">PMID:017350038</ref><references group="xtra"/>	+	<ref group="xtra">PMID:017350038</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Atkinson, R A.]]		[[Category: Atkinson, R A.]]

OCA: Protected "2jnj" [edit=sysop:move=sysop]

OCA — Mon, 07 Jan 2013 12:42:47 GMT

Protected "2jnj" [edit=sysop:move=sysop]

←Older revision

Revision as of 12:42, 7 January 2013