Version 5.4
| Mus musculus Gene: Plec | |||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||||||||||||||||
| InnateDB Gene | IDBG-153069.6 | ||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
| Gene Symbol | Plec | ||||||||||||||||||||||
| Gene Name | plectin | ||||||||||||||||||||||
| Synonyms | AA591047; AU042537; EBS1; PCN; Plec1; PLTN | ||||||||||||||||||||||
| Species | Mus musculus | ||||||||||||||||||||||
| Ensembl Gene | ENSMUSG00000022565 | ||||||||||||||||||||||
| Encoded Proteins |
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
plectin
|
||||||||||||||||||||||
| Protein Structure | |||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
| InnateDB Annotation | |||||||||||||||||||||||
| Summary |
Plec silencing reduces the Il6 production in LPS-stimulated macrophages.
|
||||||||||||||||||||||
| InnateDB Annotation from Orthologs | |||||||||||||||||||||||
| Summary |
[Homo sapiens] PLEC silencing reduces the IL6 production in LPS-stimulated macrophages. (Demonstrated in murine model)
|
||||||||||||||||||||||
| 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 (reviewed in PMID: 9701547, 11854008, 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 These names were superseded by plectin.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 (human 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. [provided by RefSeq, Aug 2011] 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 (reviewed in PMID: 9701547, 11854008, 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 were 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 (human 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. [provided by RefSeq, Aug 2011] |
||||||||||||||||||||||
| Gene Information | |||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||
| Genomic Location | Chromosome 15:76170974-76232574 | ||||||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||||||
| Band | D3 | ||||||||||||||||||||||
| Transcripts | |||||||||||||||||||||||
| Interactions | |||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
| Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
| Biological Process |
|
||||||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||||||
| Orthologs | |||||||||||||||||||||||
|
Species
Homo sapiens
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||||||
| Pathways | |||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||
| REACTOME |
Collagen formation pathway
Assembly of collagen fibrils and other multimeric structures pathway
Apoptosis pathway
Type I hemidesmosome assembly pathway
Apoptotic cleavage of cellular proteins pathway
Extracellular matrix organization pathway
Caspase-mediated cleavage of cytoskeletal proteins pathway
Cell junction organization pathway
Cell-Cell communication pathway
Apoptotic execution phase pathway
|
||||||||||||||||||||||
| KEGG | |||||||||||||||||||||||
| INOH | |||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||
| NETPATH |
Alpha6Beta4Integrin pathway
EGFR1 pathway
TSLP pathway
|
||||||||||||||||||||||
| REACTOME |
Assembly of collagen fibrils and other multimeric structures pathway
Caspase-mediated cleavage of cytoskeletal proteins pathway
Apoptotic cleavage of cellular proteins pathway
Apoptotic execution phase pathway
Type I hemidesmosome assembly pathway
Cell-Cell communication pathway
Extracellular matrix organization pathway
Cell junction organization pathway
Apoptosis pathway
Collagen formation pathway
|
||||||||||||||||||||||
| KEGG | |||||||||||||||||||||||
| INOH | |||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| UniGene | Mm.234912 Mm.418021 | ||||||||||||||||||||||
| RefSeq | NM_001163540 NM_001163542 NM_001163549 NM_001164203 NM_011117 NM_201385 NM_201386 NM_201387 NM_201388 NM_201389 NM_201390 NM_201391 NM_201392 NM_201393 NM_201394 | ||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||
| CCDS | CCDS37113 CCDS37114 CCDS37115 CCDS37116 CCDS37117 CCDS49644 CCDS49645 CCDS49646 CCDS49647 CCDS49648 CCDS49649 | ||||||||||||||||||||||
| HPRD | |||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||
| MGI ID | |||||||||||||||||||||||
| MGI Symbol | |||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||||||