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==Solution NMR Structure plectin repeat domain 6 (4403-4606) of Plectin from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR6354E==
==Solution NMR Structure plectin repeat domain 6 (4403-4606) of Plectin from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR6354E==
<StructureSection load='2n03' size='340' side='right'caption='[[2n03]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2n03' size='340' side='right'caption='[[2n03]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2n03]] is a 1 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=2N03 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2N03 FirstGlance]. <br>
<table><tr><td colspan='2'>[[2n03]] is a 1 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=2N03 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2N03 FirstGlance]. <br>
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PLEC, PLEC1 ([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=2n03 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2n03 OCA], [https://pdbe.org/2n03 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2n03 RCSB], [https://www.ebi.ac.uk/pdbsum/2n03 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2n03 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=2n03 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2n03 OCA], [https://pdbe.org/2n03 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2n03 RCSB], [https://www.ebi.ac.uk/pdbsum/2n03 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2n03 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[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>
[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 ==
[[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>
[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==
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Acton, T]]
[[Category: Acton T]]
[[Category: Eletsky, A]]
[[Category: Eletsky A]]
[[Category: Everett, J]]
[[Category: Everett J]]
[[Category: Huang, Y]]
[[Category: Huang Y]]
[[Category: Janjua, H]]
[[Category: Janjua H]]
[[Category: Montelione, G]]
[[Category: Montelione G]]
[[Category: Structural genomic]]
[[Category: Pulavarti S]]
[[Category: Pulavarti, S]]
[[Category: Szyperski T]]
[[Category: Szyperski, T]]
[[Category: Xiao R]]
[[Category: Xiao, R]]
[[Category: Cytoskeletal-linker protein]]
[[Category: Nesg]]
[[Category: Psi-biology]]
[[Category: Structural protein]]

Revision as of 11:12, 8 March 2023

Solution NMR Structure plectin repeat domain 6 (4403-4606) of Plectin from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR6354ESolution NMR Structure plectin repeat domain 6 (4403-4606) of Plectin from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR6354E

Structural highlights

2n03 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

PLEC_HUMAN Defects in PLEC are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM: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.[1] [2] [3] Defects in PLEC are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM: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: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: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.[4] [5]

Function

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.[6] [7]

See Also

References

  1. ↑ McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. 1996 Jul 15;10(14):1724-35. PMID:8698233
  2. ↑ Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H. Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. Hum Mutat. 2010 Oct;31(10):E1687-98. doi: 10.1002/humu.21330. PMID:20665883 doi:10.1002/humu.21330
  3. ↑ Charlesworth A, Gagnoux-Palacios L, Bonduelle M, Ortonne JP, De Raeve L, Meneguzzi G. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. J Invest Dermatol. 2003 Dec;121(6):1344-8. PMID:14675180 doi:12639
  4. ↑ Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet. 2010 Dec 10;87(6):834-41. doi: 10.1016/j.ajhg.2010.10.017. Epub, 2010 Nov 25. PMID:21109228 doi:10.1016/j.ajhg.2010.10.017
  5. ↑ McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. 1996 Jul 15;10(14):1724-35. PMID:8698233
  6. ↑ Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A. Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly. J Cell Sci. 2003 Jan 15;116(Pt 2):387-99. PMID:12482924
  7. ↑ Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet. 2010 Dec 10;87(6):834-41. doi: 10.1016/j.ajhg.2010.10.017. Epub, 2010 Nov 25. PMID:21109228 doi:10.1016/j.ajhg.2010.10.017
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