Homo sapiens Gene: PLEC
Summary
InnateDB Gene IDBG-39382.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLEC
Gene Name plectin
Synonyms EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1; PLEC1b; PLTN;
Species Homo sapiens
Ensembl Gene ENSG00000178209
Encoded Proteins
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. (Demonstrated in murine model)
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Plec silencing reduces the Il6 production in LPS-stimulated macrophages.
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, 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 These names were superseded by plectin.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). 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. [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, 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 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). 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. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:143915147-143976734
Strand Reverse strand
Band q24.3
Transcripts
ENST00000356346 ENSP00000348702
ENST00000354958 ENSP00000347044
ENST00000322810 ENSP00000323856
ENST00000354589 ENSP00000346602
ENST00000357649 ENSP00000350277
ENST00000345136 ENSP00000344848
ENST00000398774 ENSP00000381756
ENST00000436759 ENSP00000388180
ENST00000527096 ENSP00000434583
ENST00000527303 ENSP00000433982
ENST00000528025 ENSP00000437303
ENST00000526416 ENSP00000433557
ENST00000527816 ENSP00000434490
ENST00000528131 ENSP00000436702
ENST00000532346
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 72 [view]
Protein-Protein 72 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0030506 ankyrin binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0030198 extracellular matrix organization
GO:0031581 hemidesmosome assembly
GO:0034329 cell junction assembly
GO:0045087 innate immune response (InnateDB)
GO:0046417 chorismate metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016528 sarcoplasm
GO:0030056 hemidesmosome
GO:0042383 sarcolemma
GO:0043034 costamere
GO:0043292 contractile fiber
GO:0045111 intermediate filament cytoskeleton
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Alpha6Beta4Integrin pathway
EGFR1 pathway
TSLP pathway
REACTOME
Apoptotic execution phase pathway
Cell-Cell communication pathway
Extracellular matrix organization pathway
Cell junction organization pathway
Apoptosis pathway
Apoptotic cleavage of cellular proteins pathway
Caspase-mediated cleavage of cytoskeletal proteins pathway
Assembly of collagen fibrils and other multimeric structures pathway
Type I hemidesmosome assembly pathway
Collagen formation pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q15149
TrEMBL E9PQ28 Q96IE3
UniProt Splice Variant
Entrez Gene 5339
UniGene Hs.434248
RefSeq NM_201384 XM_005250980 NM_201378 NM_201383 NM_201382 NM_201381 NM_201380 NM_201379 NM_000445 XM_005250983 XM_006716589 XM_005250981 XM_006716590 XM_005250978 XM_005250979 XM_005250984 XM_005250977 XM_005250976 XM_005250982 XM_006716588
HUGO HGNC:9069
OMIM 601282
CCDS CCDS43775 CCDS43770 CCDS43774 CCDS43773 CCDS47936 CCDS43772 CCDS43771 CCDS43769
HPRD 03180
IMGT
EMBL AC109322 AY480044 AY480045 AY480046 AY480047 AY480048 AY480049 AY480050 AY480051 BC007597 U53204 U63609 U63610 X97053 Z54367
GenPept AAB05427 AAB05428 AAH07597 AAR95677 AAR95678 AAR95679 AAR95680 AAR95681 AAR95682 AAR95683 AAR95684 CAA65765 CAA91196
RNA Seq Atlas 5339