2mut - Revision history

OCA at 06:10, 15 May 2024

2024-05-15T06:10:45Z

← Older revision		Revision as of 06:10, 15 May 2024
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	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2mut]] 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=2MUT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2MUT FirstGlance]. <br>		<table><tr><td colspan='2'>[[2mut]] 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=2MUT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2MUT FirstGlance]. <br>
	</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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [https://pdbe.org/2mut PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [https://www.ebi.ac.uk/pdbsum/2mut PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2mut ProSAT]</span></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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [https://pdbe.org/2mut PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [https://www.ebi.ac.uk/pdbsum/2mut PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2mut ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==

OCA at 08:07, 8 March 2023

2023-03-08T08:07:32Z

← Older revision		Revision as of 08:07, 8 March 2023
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	==Solution structure of the F231L mutant ERCC1-XPF dimerization region==		==Solution structure of the F231L mutant ERCC1-XPF dimerization region==
	<StructureSection load='2mut' size='340' side='right'caption='[[2mut~~]], [[NMR_Ensembles_of_Models \| 20 NMR models~~]]' scene=''>		<StructureSection load='2mut' size='340' side='right'caption='[[2mut]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2mut]] 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=2MUT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2MUT FirstGlance]. <br>		<table><tr><td colspan='2'>[[2mut]] 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=2MUT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2MUT FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">ERCC1 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), ERCC4, ERCC11, XPF ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [https://pdbe.org/2mut PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [https://www.ebi.ac.uk/pdbsum/2mut PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2mut 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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [https://pdbe.org/2mut PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [https://www.ebi.ac.uk/pdbsum/2mut PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2mut ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
	[[https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[https://omim.org/entry/610758 610758]]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.<ref>PMID:17273966</ref> [[https://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:[https://omim.org/entry/278760 278760]]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.<ref>PMID:8797827</ref> <ref>PMID:9580660</ref> <ref>PMID:9579555</ref> Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:[https://omim.org/entry/610965 610965]]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.<ref>PMID:17183314</ref>		[https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[https://omim.org/entry/610758 610758]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.<ref>PMID:17273966</ref>
	== Function ==		== Function ==
	[[https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. [[https://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref>		[https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
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	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
	[[Category: ~~Human~~]]		[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
	[[Category: Boelens, R]]		[[Category: Boelens R]]
	[[Category: Faridounnia, M]]		[[Category: Faridounnia M]]
	[[Category: Folkers~~, G E~~]]		[[Category: Folkers GE]]
	[[Category: Hoeijmakers~~, J H.J~~]]		[[Category: Hoeijmakers JHJ]]
	[[Category: Jaspers~~, N G.J~~]]		[[Category: Jaspers NGJ]]
	[[Category: Kaptein, R]]		[[Category: Kaptein R]]
	[[Category: Kovacic, L]]		[[Category: Kovacic L]]
	[[Category: Wienk, H]]		[[Category: Wienk H]]
	~~[[Category: Ercc1-xpf]]~~
	~~[[Category: F231l]]~~
	~~[[Category: Hydrolase]]~~
	~~[[Category: Nucleotide excision repair~~]]

OCA at 15:21, 2 June 2021

2021-06-02T15:21:23Z

← Older revision		Revision as of 15:21, 2 June 2021
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	==Solution structure of the F231L mutant ERCC1-XPF dimerization region==		==Solution structure of the F231L mutant ERCC1-XPF dimerization region==
	<StructureSection load='2mut' size='340' side='right' caption='[[2mut]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2mut' size='340' side='right'caption='[[2mut]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2mut]] 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=2MUT OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2MUT FirstGlance]. <br>		<table><tr><td colspan='2'>[[2mut]] 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=2MUT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2MUT FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">ERCC1 ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), ERCC4, ERCC11, XPF ([~~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">ERCC1 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), ERCC4, ERCC11, XPF ([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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [~~http~~://pdbe.org/2mut PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2mut PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2mut 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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [https://pdbe.org/2mut PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [https://www.ebi.ac.uk/pdbsum/2mut PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2mut ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
	[[~~http~~://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[~~http~~://omim.org/entry/610758 610758]]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.<ref>PMID:17273966</ref> [[~~http~~://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:[~~http~~://omim.org/entry/278760 278760]]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.<ref>PMID:8797827</ref> <ref>PMID:9580660</ref> <ref>PMID:9579555</ref> Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:[~~http~~://omim.org/entry/610965 610965]]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.<ref>PMID:17183314</ref>		[[https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[https://omim.org/entry/610758 610758]]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.<ref>PMID:17273966</ref> [[https://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:[https://omim.org/entry/278760 278760]]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.<ref>PMID:8797827</ref> <ref>PMID:9580660</ref> <ref>PMID:9579555</ref> Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:[https://omim.org/entry/610965 610965]]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.<ref>PMID:17183314</ref>
	== Function ==		== Function ==
	[[~~http~~://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. [[~~http~~://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref>		[[https://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. [[https://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
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	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
			[[Category: Large Structures]]
	[[Category: Boelens, R]]		[[Category: Boelens, R]]
	[[Category: Faridounnia, M]]		[[Category: Faridounnia, M]]

OCA at 17:21, 15 August 2018

2018-08-15T17:21:22Z

← Older revision		Revision as of 17:21, 15 August 2018
Line 1:		Line 1:

	==Solution structure of the F231L mutant ERCC1-XPF dimerization region==		==Solution structure of the F231L mutant ERCC1-XPF dimerization region==
	<StructureSection load='2mut' size='340' side='right' caption='[[2mut]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2mut' size='340' side='right' caption='[[2mut]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2mut]] is a 2 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2MUT OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2MUT FirstGlance]. <br>		<table><tr><td colspan='2'>[[2mut]] 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=2MUT OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2MUT FirstGlance]. <br>
	</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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [http://www.ebi.ac.uk/pdbsum/2mut PDBsum]</span></td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">ERCC1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), ERCC4, ERCC11, XPF ([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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [http://pdbe.org/2mut PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [http://www.ebi.ac.uk/pdbsum/2mut PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2mut ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
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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 2mut" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
			[[Category: Human]]
	[[Category: Boelens, R]]		[[Category: Boelens, R]]
	[[Category: Faridounnia, M]]		[[Category: Faridounnia, M]]

OCA at 07:36, 26 August 2015

2015-08-26T07:36:47Z

← Older revision		Revision as of 07:36, 26 August 2015
Line 9:		Line 9:
	== Function ==		== Function ==
	[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. [[http://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref>		[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. [[http://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref>
			<div style="background-color:#fffaf0;">
			== Publication Abstract from PubMed ==
			The ERCC1-XPF heterodimer, a structure-specific DNA endonuclease, is best known for its function in the nucleotide excision repair (NER) pathway. The ERCC1 point mutation F231L, located at the hydrophobic interaction interface of ERCC1 (excision repair cross-complementation group 1) and XPF (xeroderma pigmentosum complementation group F), leads to severe NER pathway deficiencies. Here, we analyze biophysical properties and report the NMR structure of the complex of the C-terminal tandem helix-hairpin-helix domains of ERCC1-XPF that contains this mutation. The structures of wild type and the F231L mutant are very similar. The F231L mutation results in only a small disturbance of the ERCC1-XPF interface, where, in contrast to Phe(231), Leu(231) lacks interactions stabilizing the ERCC1-XPF complex. One of the two anchor points is severely distorted, and this results in a more dynamic complex, causing reduced stability and an increased dissociation rate of the mutant complex as compared with wild type. These data provide a biophysical explanation for the severe NER deficiencies caused by this mutation.

			The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.,Faridounnia M, Wienk H, Kovacic L, Folkers GE, Jaspers NG, Kaptein R, Hoeijmakers JH, Boelens R J Biol Chem. 2015 Aug 14;290(33):20541-55. doi: 10.1074/jbc.M114.635169. Epub, 2015 Jun 17. PMID:26085086<ref>PMID:26085086</ref>

			From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
			</div>
	== References ==		== References ==
	<references/>		<references/>

OCA at 12:57, 24 June 2015

2015-06-24T12:57:42Z

← Older revision		Revision as of 12:57, 24 June 2015
Line 1:		Line 1:
	'''~~Unreleased structure~~'''		==Solution structure of the F231L mutant ERCC1-XPF dimerization region==
			<StructureSection load='2mut' size='340' side='right' caption='[[2mut]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	~~The entry~~ 2mut is ~~ON HOLD until Paper Publication~~		== Structural highlights ==
			<table><tr><td colspan='2'>[[2mut]] is a 2 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2MUT OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2MUT FirstGlance]. <br>
	~~Authors~~: ~~Faridounnia~~, M., ~~Wienk~~, H., ~~Kovacic~~, L., ~~Folkers~~, G.E., ~~Jaspers~~, N.G.J.~~, Kaptein, R~~.~~, Hoeijmakers, J~~.H.J., ~~Boelens, R~~.		</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=2mut FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mut OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2mut RCSB], [http://www.ebi.ac.uk/pdbsum/2mut PDBsum]</span></td></tr>
			</table>
	~~Description~~: ~~Solution structure of~~ the ~~F231L mutant ERCC1~~-~~XPF dimerization region~~		== Disease ==
	[[Category: ~~Unreleased Structures~~]]		[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[http://omim.org/entry/610758 610758]]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.<ref>PMID:17273966</ref> [[http://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:[http://omim.org/entry/278760 278760]]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.<ref>PMID:8797827</ref> <ref>PMID:9580660</ref> <ref>PMID:9579555</ref> Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:[http://omim.org/entry/610965 610965]]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.<ref>PMID:17183314</ref>
	[[Category: ~~Folkers~~, ~~G.E~~]]		== Function ==
	[[Category: ~~Wienk~~, H]]		[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. [[http://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref>
	[[Category: Hoeijmakers, J.H.J]]		== References ==
	[[Category: Jaspers, N.G.J]]		<references/>
			__TOC__
			</StructureSection>
			[[Category: Boelens, R]]
			[[Category: Faridounnia, M]]
			[[Category: Folkers, G E]]
			[[Category: Hoeijmakers, J H.J]]
			[[Category: Jaspers, N G.J]]
	[[Category: Kaptein, R]]		[[Category: Kaptein, R]]
	~~[[Category: Faridounnia, M]]~~
	[[Category: Kovacic, L]]		[[Category: Kovacic, L]]
	[[Category: ~~Boelens~~, R]]		[[Category: Wienk, H]]
			[[Category: Ercc1-xpf]]
			[[Category: F231l]]
			[[Category: Hydrolase]]
			[[Category: Nucleotide excision repair]]

OCA at 12:27, 24 December 2014

2014-12-24T12:27:30Z

← Older revision		Revision as of 12:27, 24 December 2014
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	Description: Solution structure of the F231L mutant ERCC1-XPF dimerization region		Description: Solution structure of the F231L mutant ERCC1-XPF dimerization region
			[[Category: Unreleased Structures]]
			[[Category: Folkers, G.E]]
			[[Category: Wienk, H]]
			[[Category: Hoeijmakers, J.H.J]]
			[[Category: Jaspers, N.G.J]]
			[[Category: Kaptein, R]]
			[[Category: Faridounnia, M]]
			[[Category: Kovacic, L]]
			[[Category: Boelens, R]]

OCA at 06:19, 26 November 2014

2014-11-26T06:19:24Z

← Older revision		Revision as of 06:19, 26 November 2014
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	'''Unreleased structure'''		'''Unreleased structure'''

	The entry 2mut is ON HOLD		The entry 2mut is ON HOLD until Paper Publication

	Authors: Faridounnia, M., Wienk, H., Kovacic, L., Folkers, G.E., Jaspers, N.G.J., Kaptein, R., Hoeijmakers, J.H.J., Boelens, R.		Authors: Faridounnia, M., Wienk, H., Kovacic, L., Folkers, G.E., Jaspers, N.G.J., Kaptein, R., Hoeijmakers, J.H.J., Boelens, R.

	Description: Solution structure of the F231L mutant ERCC1-XPF dimerization region		Description: Solution structure of the F231L mutant ERCC1-XPF dimerization region

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

2014-09-24T07:29:54Z

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

← Older revision	Revision as of 07:29, 24 September 2014
(No difference)

OCA: New page: '''Unreleased structure''' The entry 2mut is ON HOLD Authors: Faridounnia, M., Wienk, H., Kovacic, L., Folkers, G.E., Jaspers, N.G.J., Kaptein, R., Hoeijmakers, J.H.J., Boelens, R. Des...

2014-09-24T07:29:52Z

New page: '''Unreleased structure''' The entry 2mut is ON HOLD Authors: Faridounnia, M., Wienk, H., Kovacic, L., Folkers, G.E., Jaspers, N.G.J., Kaptein, R., Hoeijmakers, J.H.J., Boelens, R. Des...

New page

'''Unreleased structure'''

The entry 2mut is ON HOLD

Authors: Faridounnia, M., Wienk, H., Kovacic, L., Folkers, G.E., Jaspers, N.G.J., Kaptein, R., Hoeijmakers, J.H.J., Boelens, R.

Description: Solution structure of the F231L mutant ERCC1-XPF dimerization region