4q58 - Revision history

OCA at 12:44, 1 March 2024

OCA — Fri, 01 Mar 2024 12:44:17 GMT

←Older revision		Revision as of 12:44, 1 March 2024
Line 4:		Line 4:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4Q58 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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [https://pdbe.org/4q58 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [https://www.ebi.ac.uk/pdbsum/4q58 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4q58 ProSAT]</span></td></tr>	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution\|Resolution]] 4.001Å</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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [https://pdbe.org/4q58 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [https://www.ebi.ac.uk/pdbsum/4q58 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4q58 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==

OCA at 07:44, 8 February 2023

OCA — Wed, 08 Feb 2023 07:44:09 GMT

←Older revision		Revision as of 07:44, 8 February 2023
Line 3:		Line 3:
	<StructureSection load='4q58' size='340' side='right'caption='[[4q58]], [[Resolution\|resolution]] 4.00Å' scene=''>		<StructureSection load='4q58' size='340' side='right'caption='[[4q58]], [[Resolution\|resolution]] 4.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [~~http~~://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>
-	</td></tr>~~<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4q57\|4q57]], [[4q59\|4q59]]</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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [https://pdbe.org/4q58 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [https://www.ebi.ac.uk/pdbsum/4q58 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4q58 ProSAT]</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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [~~http~~://pdbe.org/4q58 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/4q58 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=4q58 ProSAT]</span></td></tr>	+
	</table>		</table>
	== Disease ==		== Disease ==
-	[~~[http~~://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Defects in PLEC are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:[~~http~~://omim.org/entry/612138 612138]]. EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.<ref>PMID:8698233</ref> <ref>PMID:20665883</ref> <ref>PMID:14675180</ref> Defects in PLEC are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:[~~http~~://omim.org/entry/226670 226670]]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy. Defects in PLEC are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:[~~http~~://omim.org/entry/131950 131950]]; also called epidermolysis bullosa simplex 1. O-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. Defects in PLEC are the cause of limb-girdle muscular dystrophy type 2Q (LGMD2Q) [MIM:[~~http~~://omim.org/entry/613723 613723]]. An autosomal recessive degenerative myopathy characterized by early childhood onset of proximal muscle weakness. Note=A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.<ref>PMID:21109228</ref> <ref>PMID:8698233</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:[http://omim.org/entry/226730 226730]]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.<ref>PMID:9792864</ref> <ref>PMID:9422533</ref> <ref>PMID:9546354</ref> <ref>PMID:9892956</ref> <ref>PMID:10873890</ref> <ref>PMID:11251584</ref> <ref>PMID:11328943</ref> Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:[http://omim.org/entry/226650 226650]]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.<ref>PMID:10792571</ref>	+	[https://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN] Defects in PLEC are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:[https://omim.org/entry/612138 612138]. EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.<ref>PMID:8698233</ref> <ref>PMID:20665883</ref> <ref>PMID:14675180</ref> Defects in PLEC are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:[https://omim.org/entry/226670 226670]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy. Defects in PLEC are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:[https://omim.org/entry/131950 131950]; also called epidermolysis bullosa simplex 1. O-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. Defects in PLEC are the cause of limb-girdle muscular dystrophy type 2Q (LGMD2Q) [MIM:[https://omim.org/entry/613723 613723]. An autosomal recessive degenerative myopathy characterized by early childhood onset of proximal muscle weakness. Note=A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.<ref>PMID:21109228</ref> <ref>PMID:8698233</ref>
	== Function ==		== Function ==
-	[~~[http~~://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity.<ref>PMID:12482924</ref> <ref>PMID:21109228</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.<ref>PMID:12482924</ref> <ref>PMID:19403692</ref>	+	[https://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN] Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity.<ref>PMID:12482924</ref> <ref>PMID:21109228</ref>

	==See Also==		==See Also==
-	*[[Integrin\|Integrin]]	+	*[[Integrin 3D structures\|Integrin 3D structures]]
	*[[Plectin\|Plectin]]		*[[Plectin\|Plectin]]
	== References ==		== References ==
Line 21:		Line 20:
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Djinovic-Carugo, K]]	+	[[Category: Djinovic-Carugo K]]
-	[[Category: Grishkovskaya, I]]	+	[[Category: Grishkovskaya I]]
-	[[Category: Kostan, J]]	+	[[Category: Kostan J]]
-	[[Category: Song, J G]]	+	[[Category: Song J-G]]
-	~~[[Category: Calponin homology domain]]~~	+
-	~~[[Category: Structural protein-protein binding complex~~]]	+

OCA at 09:15, 24 April 2019

OCA — Wed, 24 Apr 2019 09:15:40 GMT

←Older revision		Revision as of 09:15, 24 April 2019
Line 1:		Line 1:

	==Crystal structure of the plectin 1a actin-binding domain/integrin beta 4 fragment complex==		==Crystal structure of the plectin 1a actin-binding domain/integrin beta 4 fragment complex==
-	<StructureSection load='4q58' size='340' side='right' caption='[[4q58]], [[Resolution\|resolution]] 4.00Å' scene=''>	+	<StructureSection load='4q58' size='340' side='right'caption='[[4q58]], [[Resolution\|resolution]] 4.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>
Line 20:		Line 20:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
		+	[[Category: Large Structures]]
	[[Category: Djinovic-Carugo, K]]		[[Category: Djinovic-Carugo, K]]
	[[Category: Grishkovskaya, I]]		[[Category: Grishkovskaya, I]]

OCA at 17:16, 11 August 2016

OCA — Thu, 11 Aug 2016 17:16:19 GMT

←Older revision		Revision as of 17:16, 11 August 2016
Line 1:		Line 1:
		+
	==Crystal structure of the plectin 1a actin-binding domain/integrin beta 4 fragment complex==		==Crystal structure of the plectin 1a actin-binding domain/integrin beta 4 fragment complex==
	<StructureSection load='4q58' size='340' side='right' caption='[[4q58]], [[Resolution\|resolution]] 4.00Å' scene=''>		<StructureSection load='4q58' size='340' side='right' caption='[[4q58]], [[Resolution\|resolution]] 4.00Å' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>
	</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4q57\|4q57]], [[4q59\|4q59]]</td></tr>		</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4q57\|4q57]], [[4q59\|4q59]]</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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [http://www.ebi.ac.uk/pdbsum/4q58 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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [http://pdbe.org/4q58 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [http://www.ebi.ac.uk/pdbsum/4q58 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4q58 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 10:		Line 11:
	== Function ==		== Function ==
	[[http://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity.<ref>PMID:12482924</ref> <ref>PMID:21109228</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.<ref>PMID:12482924</ref> <ref>PMID:19403692</ref>		[[http://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity.<ref>PMID:12482924</ref> <ref>PMID:21109228</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.<ref>PMID:12482924</ref> <ref>PMID:19403692</ref>
		+
		+	==See Also==
		+	*[[Integrin\|Integrin]]
		+	*[[Plectin\|Plectin]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 12:54, 5 January 2015

OCA — Mon, 05 Jan 2015 12:54:28 GMT

←Older revision		Revision as of 12:54, 5 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4q57\|4q57]], [[4q59\|4q59]]</td></tr>	+	</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4q57\|4q57]], [[4q59\|4q59]]</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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [http://www.ebi.ac.uk/pdbsum/4q58 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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [http://www.ebi.ac.uk/pdbsum/4q58 PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Defects in PLEC are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:[http://omim.org/entry/612138 612138]]. EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.<ref>PMID:8698233</ref> <ref>PMID:20665883</ref> <ref>PMID:14675180</ref> Defects in PLEC are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:[http://omim.org/entry/226670 226670]]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy. Defects in PLEC are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:[http://omim.org/entry/131950 131950]]; also called epidermolysis bullosa simplex 1. O-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. Defects in PLEC are the cause of limb-girdle muscular dystrophy type 2Q (LGMD2Q) [MIM:[http://omim.org/entry/613723 613723]]. An autosomal recessive degenerative myopathy characterized by early childhood onset of proximal muscle weakness. Note=A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.<ref>PMID:21109228</ref> <ref>PMID:8698233</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:[http://omim.org/entry/226730 226730]]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.<ref>PMID:9792864</ref> <ref>PMID:9422533</ref> <ref>PMID:9546354</ref> <ref>PMID:9892956</ref> <ref>PMID:10873890</ref> <ref>PMID:11251584</ref> <ref>PMID:11328943</ref> Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:[http://omim.org/entry/226650 226650]]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.<ref>PMID:10792571</ref>		[[http://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Defects in PLEC are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:[http://omim.org/entry/612138 612138]]. EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.<ref>PMID:8698233</ref> <ref>PMID:20665883</ref> <ref>PMID:14675180</ref> Defects in PLEC are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:[http://omim.org/entry/226670 226670]]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy. Defects in PLEC are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:[http://omim.org/entry/131950 131950]]; also called epidermolysis bullosa simplex 1. O-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. Defects in PLEC are the cause of limb-girdle muscular dystrophy type 2Q (LGMD2Q) [MIM:[http://omim.org/entry/613723 613723]]. An autosomal recessive degenerative myopathy characterized by early childhood onset of proximal muscle weakness. Note=A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.<ref>PMID:21109228</ref> <ref>PMID:8698233</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:[http://omim.org/entry/226730 226730]]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.<ref>PMID:9792864</ref> <ref>PMID:9422533</ref> <ref>PMID:9546354</ref> <ref>PMID:9892956</ref> <ref>PMID:10873890</ref> <ref>PMID:11251584</ref> <ref>PMID:11328943</ref> Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:[http://omim.org/entry/226650 226650]]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.<ref>PMID:10792571</ref>
Line 15:		Line 15:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Djinovic-Carugo, K.]]	+	[[Category: Djinovic-Carugo, K]]
-	[[Category: Grishkovskaya, I.]]	+	[[Category: Grishkovskaya, I]]
-	[[Category: Kostan, J.]]	+	[[Category: Kostan, J]]
-	[[Category: Song, J G.]]	+	[[Category: Song, J G]]
	[[Category: Calponin homology domain]]		[[Category: Calponin homology domain]]
	[[Category: Structural protein-protein binding complex]]		[[Category: Structural protein-protein binding complex]]

OCA at 08:11, 23 July 2014

OCA — Wed, 23 Jul 2014 08:11:23 GMT

←Older revision		Revision as of 08:11, 23 July 2014
Line 1:		Line 1:
-	'''~~Unreleased structure~~'''	+	==Crystal structure of the plectin 1a actin-binding domain/integrin beta 4 fragment complex==
-		+	<StructureSection load='4q58' size='340' side='right' caption='[[4q58]], [[Resolution\|resolution]] 4.00Å' scene=''>
-	~~The entry~~ 4q58 is ~~ON HOLD~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[4q58]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4Q58 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4Q58 FirstGlance]. <br>
-	~~Authors~~: ~~Song~~, J.-G., ~~Kostan~~, J., ~~Grishkovskaya~~, I., ~~Djinovic~~-~~Carugo~~, K.	+	</td></tr><tr><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4q57\|4q57]], [[4q59\|4q59]]</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=4q58 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4q58 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4q58 RCSB], [http://www.ebi.ac.uk/pdbsum/4q58 PDBsum]</span></td></tr>
-	~~Description~~: ~~Crystal structure~~ of the ~~plectin 1a actin~~-~~binding domain~~/~~integrin~~ beta 4 ~~fragment~~ complex	+	<table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Defects in PLEC are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:[http://omim.org/entry/612138 612138]]. EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.<ref>PMID:8698233</ref> <ref>PMID:20665883</ref> <ref>PMID:14675180</ref> Defects in PLEC are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:[http://omim.org/entry/226670 226670]]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy. Defects in PLEC are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:[http://omim.org/entry/131950 131950]]; also called epidermolysis bullosa simplex 1. O-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. Defects in PLEC are the cause of limb-girdle muscular dystrophy type 2Q (LGMD2Q) [MIM:[http://omim.org/entry/613723 613723]]. An autosomal recessive degenerative myopathy characterized by early childhood onset of proximal muscle weakness. Note=A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.<ref>PMID:21109228</ref> <ref>PMID:8698233</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:[http://omim.org/entry/226730 226730]]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.<ref>PMID:9792864</ref> <ref>PMID:9422533</ref> <ref>PMID:9546354</ref> <ref>PMID:9892956</ref> <ref>PMID:10873890</ref> <ref>PMID:11251584</ref> <ref>PMID:11328943</ref> Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:[http://omim.org/entry/226650 226650]]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.<ref>PMID:10792571</ref>
		+	== Function ==
		+	[[http://www.uniprot.org/uniprot/PLEC_HUMAN PLEC_HUMAN]] Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity.<ref>PMID:12482924</ref> <ref>PMID:21109228</ref> [[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.<ref>PMID:12482924</ref> <ref>PMID:19403692</ref>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Homo sapiens]]
		+	[[Category: Djinovic-Carugo, K.]]
		+	[[Category: Grishkovskaya, I.]]
		+	[[Category: Kostan, J.]]
		+	[[Category: Song, J G.]]
		+	[[Category: Calponin homology domain]]
		+	[[Category: Structural protein-protein binding complex]]

OCA: Protected "4q58" [edit=sysop:move=sysop]

OCA — Wed, 23 Apr 2014 07:30:14 GMT

Protected "4q58" [edit=sysop:move=sysop]

←Older revision

Revision as of 07:30, 23 April 2014

OCA: New page: '''Unreleased structure''' The entry 4q58 is ON HOLD Authors: Song, J.-G., Kostan, J., Grishkovskaya, I., Djinovic-Carugo, K. Description: Crystal structure of the plectin 1a actin-bin...

OCA — Wed, 23 Apr 2014 07:30:13 GMT

New page: '''Unreleased structure''' The entry 4q58 is ON HOLD Authors: Song, J.-G., Kostan, J., Grishkovskaya, I., Djinovic-Carugo, K. Description: Crystal structure of the plectin 1a actin-bin...

New page

'''Unreleased structure'''

The entry 4q58 is ON HOLD

Authors: Song, J.-G., Kostan, J., Grishkovskaya, I., Djinovic-Carugo, K.

Description: Crystal structure of the plectin 1a actin-binding domain/integrin beta 4 fragment complex