Recombinant Human Plectin (PLEC), partial

1. The study has identified two mutations in two large consanguineous pedigrees. Identification of novel variants in the LAMA3 and PLEC genes will expand the mutation spectrum and also help in genetic counselling of patients in the Pakistani population. PMID: 29797489
2. These findings extend current knowledge of the mutation spectrum of the PLEC gene associated with limbgirdle muscular dystrophy 2Q. PMID: 28447722
3. The Structure of the Plakin Domain of Plectin Reveals an Extended Rod-like Shape. PMID: 27413182
4. We present two cases of Epidermolysis bullosa with significant urologic involvement resulting from mutations in plectin. PMID: 27813154
5. lectin and cytoskeletons were not detected in the nuclei of liver cells compared to the results of confocal microscopy. Despite the absence of nuclear plectin and cytoskeletal filaments, the evidence provided support that nuclear pleomorphism of cancer cells is correlated with the cytoplasmic disorganization of cytoskeleton. PMID: 27566071
6. data demonstrate that plectin is an essential regulator of nuclear morphology in vitro and in vivo and protects the nucleus from mechanical deformation. PMID: 26527396
7. The dominant expression of the P1a isoform in epidermal basal cell layer and cultured keratinocytes suggests that mutations in the first exon of isoform 1a cause skin-only epidermolysis bullosa simplex without extracutaneous involvement. PMID: 25712130
8. Report of a non-consanguineous Iranian family with two affected sisters showing limb-girdle muscular dystrophy and myasthenic symptoms without any skin involvement, caused by plectinopathy. PMID: 25556389
9. plectin interacts with keratins 5 and 14 in a process associated with epidermolysis bullosa simplex PMID: 24940650
10. Six of sicteen epidermolysis bullosa simplex probands had dominant PLEC missense mutations. PMID: 23774525
11. Mislocated Plectin is necessary for exosome formation and produces exosomes that are capable of promoting pancreatic tumor growth and aggression. PMID: 24218614
12. this study is the first to demonstrate that up-regulation of vimentin and plectin expression positively correlates with the invasion and metastasis of androgen-independent PCA PMID: 23717685
13. the potential importance of the endophilin B2-plectin complex in the biological functions depending on nuclear migration and positioning. PMID: 23921385
14. results confirm epidermolysis bullosa simplex-pyloric atresia is linked to mutations in distal exons 1-30 and 32 of PLEC; while epidermolysis bullosa simplex-muscular dystrophy is linked to PLEC mutations in all exons, in most cases one of the mutations affects exon 31 PMID: 23289980
15. findings suggest that plectin promotes the migration and invasion of head and neck squamous cell carcinoma (HNSCC) cells through activation of Erk 1/2 kinase and is a potential prognostic biomarker of HNSCC. PMID: 22245045
16. mutational analysis of PLEC1 revealed a homozygous 36 nucleotide insertion (1506_1507ins36) that results in a reduced expression of PLEC1 mRNA and plectin in patients with epidermolysis bullosa simplex and congenital myasthenic syndrome. PMID: 21175599
17. A linker region in the COOH-terminal end and serine residue at position 4645 may be important for the binding of plectin to intermediate filaments. PMID: 22333906
18. The novel FUS-plectin interaction offers new perspectives for understanding the role of FUS and plectin mutations in the pathogenesis of FUS associated diseases PMID: 22240165
19. novel esophageal squamous cell carcinoma marker plectin 1 was identified by mass spectrometry and immunohistochemical analysis PMID: 21743296
20. plectin participates in actin assembly and invasiveness in carcinoma cells in an isoform-specific manner PMID: 21821021
21. plectin deficiency might play an important role in the transformation of human liver cells PMID: 21424933
22. The structure of the plakin domain of plectin reveals a non-canonical SH3 domain interacting with its fourth spectrin repeat. PMID: 21288893
23. degradation of plectin induced by staurosporine-treatment in liver cells resulted in cytoskeleton disruption and induced morphological changes in these cells by affecting the expression and organization of cytokeratin 18. PMID: 21420381
24. plectin expression was deficient in hepatocellular carcinoma and was probably through post-translational modification PMID: 21469503
25. Plectin deficiency can indeed lead to both muscular dystrophy and pyloric atresia in an individual epidermolysis bullosa simplex (EBS) patient. PMID: 20665883
26. data show that isoform 1f of plectin plays a key role in skeletal muscle function and that disruption of the plectin 1f can cause the LGMD2 phenotype without any dermatologic component as was previously reported with mutations in constant exons of PLEC PMID: 21109228
27. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex PMID: 20052759
28. Autosomal recessive forms of epidermolysis bullosa simplex associated with extracutaneous manifestations, such as muscular dystrophy (MIM 226670) or pyloric atresia (MIM 612138), have been linked to genetic mutations in the gene for plectin PMID: 20447487
29. missense mutation causes structure of plectin amino terminus alteration so binding to actin and costameric proteins are attenuated PMID: 20016501
30. The structure was solved by the molecular-replacement method. In addition, the preparation of selenomethionine-derivative crystals is described. PMID: 12136158
31. Data report the crystal structure of the actin binding domain of plectin and show that this region is sufficient for interaction with F-actin or the cytoplasmic region of integrin alpha6beta4. PMID: 12791251
32. propose a previously unrecognized function of plectin as cytoskeletal regulator of PKC signaling (dislocation of PKCdelta and elevated enzymatic activity), and possibly other signaling events, through sequestration of the scaffolding protein RACK1 PMID: 14966116
33. the involvement of desmoplakin (DP), plectin, and periplakin in the destruction of epithelial cell integrity ensures the efficient elimination of cytoskeleton, but also provides specificity for selectively targeting individual adhesion molecules PMID: 15500642
34. homozygous mutations in the plectin gene (PLEC1)in epidermolysis bullosa with pyloric atresia PMID: 15654962
35. discussion of phenotypic spectrum of plectin mutations [review] PMID: 15810881
36. the CH1 domain of the plectin-ABD associates with the groove between the two FNIII domains of beta4 PMID: 15817481
37. Co-localization, co-immunoprecipitation, and in vitro overlay analyses demonstrated direct interaction of plectin and GFAP. PMID: 16507904
38. Results describe the crystal structure of an N-terminal fragment of the plakin domain of plectin to 2.05 A resolution. PMID: 17397861
39. PLEC1 was differeentially expressed in sclerotic hippocampi compared to non-sclerotic ones. PMID: 17515952
40. A novel functional co-localisation is identified between two plakin cytolinker proteins. PMID: 17662978
41. results reveal that plectin is up-regulated in colorectal adenocarcinoma as well as in bizarre glands and locally invasive tumor nests in tubular adenoma, compared with normal colorectal mucosa PMID: 18084872
42. Thus, plectin appears to interact with CXCR4 and plays an important role in CXCR4 signaling and trafficking and HIV-1 infection. PMID: 18155192
43. Data show that intermediate filament recruitment to focal adhesions in endothelial cells requires beta3 integrin, plectin and the microtubule cytoskeleton, and is dependent on microtubule motors. PMID: 19366731
44. BRCA2-plectin interaction plays an important role in the regulation of centrosome localization and also that displacement of the centrosome may result in genomic instability and cancer development. PMID: 19709076
45. During polarization of peripheral blood T lymphocytes, plectin redistributes to the uropod associated with vimentin and fodrin. This vimentin-plectin-fodrin complex provides a continuous linkage from the nucleus (lamin B) to the cortical cytoskeleton. PMID: 11441066

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HGNC: 9069

OMIM: 131950

KEGG: hsa:5339

STRING: 9606.ENSP00000323856

UniGene: Hs.434248