Plectin (PLEC)
The protein contains 4684 amino acids for an estimated molecular weight of 531791 Da.
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 myofiber integrity. (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology.
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Biological Process
Collagen fibril organization
Hemidesmosome assembly
Intermediate filament cytoskeleton organization
Wound healing
The reference OMIM entry for this protein is 131950
Epidermolysis bullosa simplex, ogna type; ebsog
A number sign (#) is used with this entry because of evidence that the Ogna type of epidermolysis bullosa simplex is caused by heterozygous mutation in the PLEC1 gene (601282) on chromosome 8p24.
CLINICAL FEATURES
This form of EBS was identified by Gedde-Dahl (1971) in a large Norwegian kindred living in the town of Ogna. It was differentiated from the more generalized form of Koebner (131900) and the localized form of Weber and Cockayne (131800) by the occurrence of skin bruising in the Ogna type. Gedde-Dahl (1977) identified 97 cases in the Norwegian kindred. He suggested that the first family of Cockayne (see 131800) may have had the Ogna form. Koss-Harnes et al. (2002) characterized the ultrastructural characteristics of EBS Ogna skin and found that blisters do not start via cytolysis of subnuclear central portions of the basal cell cytoplasm as in EBS Koebner and EBS Weber-Cockayne, but originate in the deepest areas of the basal cell cytoplasm, immediately above (but not within) hemidesmosomes. In unseparated perilesional and preblistering skin, keratin filaments are inconspicuous and normal for basal cells, but their insertion into the hemidesmosome attachment plates is impaired. Clumped basal keratins as in the Dowling-Meara type (131760) were not found in any of the skin samples. The hemidesmosomes themselves are normally structured with regard to their extracellular portions, but their intracellular attachment plates are mostly thin, their thickness being about half that of normal hemidesmosome attachment plates. This specific ultrastructure is significantly different from classical cases of EBS Koebner, EBS Weber-Cockayne, and EBS Dowling-Meara, all of which form entirely normal hemidesmosomes. Consistent with the absence of muscular symptoms in these patients, muscle biopsies from several affected members of the Norwegian kindred showed normal staining patterns using antibodies to plectin.MAPPING
Olaisen and Gedde-Dahl (1973) concluded that the locus for this disorder is closely linked (about 3 cM) to that for red cell soluble glutamate-pyruvate transaminase (GPT; 138200). Inasmuch as GPT has been localized to 8q24, EBS1 must be located there as well.MOLECULAR GENETICS
Koss-Harnes et al. (2002) reported that the EBS Ogna phenotype is due to a site-specific heterozygous missense mutation within the rod domain of plectin (601282.0005). Mutations in plectin also cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (226670). Koss-Harnes et al. (2002) showed that EBS Ogna is not restricted to a single Norwegian kindred as theretofore believed. A German family with the phenotypic hallmarks of EBS Ogna carried an identical de novo mutation. Koss-Harnes et al. (2002) concluded that these 2 mutations arose about 200 years apart. ... More on the omim web site
Nov. 17, 2018: Protein entry updated
Automatic update: OMIM entry 131950 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).