PLEC human: plectin
Aliases: hemidesmosomal protein 1, plectin 1, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein, 500kD, PLEC1, HD1, PLEC1b, PCN, EBS1, EBSO, PLTN
Pfam Domain Structure
From PLEC (human)
Protein Overview
| Official Gene Name | PLEC (H. sapiens) |
| RefSeq Protein Name | plectin |
| UniProt Gene Symbol | PLEC_HUMAN |
| UniProt Name | Plectin |
| Entrez Gene Summary | Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (for reviews see PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names have been superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). It has been shown that the short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. |
References
- Boczonadi V, McInroy L, Määttä A. Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration. Exp. Cell Res. 2007; 313:3579-91 (PubMed)
- Gad A, Lach S, Crimaldi L, Gimona M. Plectin deposition at podosome rings requires myosin contractility. Cell Motil. Cytoskeleton 2008; 65:614-25 (PubMed)
- Litjens SH, de Pereda JM, Sonnenberg A. Current insights into the formation and breakdown of hemidesmosomes. Trends Cell Biol. 2006; 16:376-83 (PubMed)
- Sonnenberg A, Liem RK. Plakins in development and disease. Exp. Cell Res. 2007; 313:2189-203 (PubMed)
- Winter L, Abrahamsberg C, Wiche G. Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape. J. Cell Biol. 2008; 181:903-11 (PubMed)
Consortium Results & Data
Discovery» siRNA migration screen using a wound healing approach
| Gene | Description | MCF-10A phenotype | Secondary screen | Wound Image | Morphology | Time-lapse |
|
PLEC1 Aliases: HD1, PCN, EBS1, EBSO, PLTN, PLEC1b Entrez Gene: 5339 siRNA catalog |
plectin 1, intermediate filament binding protein 500kDa mRNA: NM_000445 Library: MAR Classification: cytoskeletal Focal Adhesion Related: Yes |
Final bin: Discordant SMARTpool bin: No change Avg area: 1.71 Avg Alamar: 1.02 Knockdown %: not done |
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Discovery» siRNA Focal Adhesion Phenotypes
| Gene | Description | High-Res | Montage |
|
PLEC1 Aliases: HD1, PCN, EBS1, EBSO, PLTN, PLEC1b Entrez Gene: 5339 siRNA catalog |
plectin 1, intermediate filament binding protein 500kDa mRNA: NM_000445 Library: MAR |
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Proteomics» Table 1. Identification and Quantitation of Proteins from Cell Body (CB) and Pseudopodium (PD) fractions
| IPI | Locus | Description | CB Spectra | CB peptide | PD Spectra | PD peptide | ratio |
| IPI00014898 | PLEC1 | SPLICE ISOFORM 1 OF PLECTIN 1. | 299 | 126 | 567 | 182 | 1.90 |
| IPI00398779 | PLEC1 | PLECTIN 11. | 310 | 132 | 584 | 188 | 1.88 |
Proteomics» Table 2. Proteins in major organelles and subcellular compartments
| IPI | Locus | Description | CB Spectra | PD Spectra | ratio | Location |
| IPI00014898 | PLEC1 | SPLICE ISOFORM 1 OF PLECTIN 1. | 299 | 567 | 1.9 | cytoskeleton |
Proteomics» Table 3. Quantitation of phosphopeptides identified in Pseudopodium (PD) and Cell Body (CB) fractions
| IPI | Locus | Description | peptide | pdcb_p | pdcb_t | ratio | Mouse homology | Rat homology | Zebrafish homology | sd | Variable sites |
| IPI00398779 | PLEC1 | PLECTIN 11. | TSS*EDNLYLAVLR | 5.83 | 1.88 | 3.09 | +++ | 0.92 | S1 OR S2 | ||
| IPI00398779 | PLEC1 | PLECTIN 11. | RTS*SEDNLYLAVLR | 3.3 | 1.88 | 1.75 | +++ | 0.42 | S1 OR S2 | ||
| IPI00014898 | PLEC1 | PLECTIN 1. | SS*SVGS*SSSYPISPAVSR | 6.81 | 1.90 | 3.59 | ++ | ++ | ++ | 1.11 | S2S4 OR S3S4 |
Consortium Related Products*
Constructs » activity page
| Ortholog | Species | Targets | Name | Amino Acid Range | Portion | Protocol | Source |
|---|---|---|---|---|---|---|---|
| PLEC1 | human | Plectin - soluble/great yield | pET15b-plectin6ss-mut | 59-293 | Plectin -ABD domain mutant | - |
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| PLEC1 | human | Plectin - soluble/great yield | pET15b-plectin6 | 59-293 | Plectin - Actin binding domain (ABD) | available | Liddington |
* The resources presented here are largely those generated by the Consortium. The sidebar provides public databases that complement Consortium activities. For mice and biosensors, a public database is not available and therefore we have attempted to generate a migration related list for your convenience.
Isoforms
| Isoform Name | RefSeq Protein | RefSeq mRNA | Swissprot ID |
|---|---|---|---|
| isoform 1 | NP_000436 | NM_000445 | Q15149 |
| isoform 2 | NP_958780 | NM_201378 | Q15149 |
| isoform 3 | NP_958781 | NM_201379 | Q15149 |
| isoform 6 | NP_958782 | NM_201380 | Q15149 |
| isoform 7 | NP_958783 | NM_201381 | Q15149 |
| isoform 8 | NP_958784 | NM_201382 | Q15149 |
| isoform 10 | NP_958785 | NM_201383 | Q15149 |
| isoform 11 | NP_958786 | NM_201384 | Q15149 |
bold indicates the primary isoform
Pathways