Mouse Gene Plec1 (R4862) Description and Page Index
  Description: plectin 1 isoform 10
RefSeq Summary (NM_201393): 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 These names were superseded by plectin.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].
Transcript (Including UTRs)
   Position: mm8 chr15:75,998,231-76,025,464 Size: 27,234 Total Exon Count: 32 Strand: -
Coding Region
   Position: mm8 chr15:75,999,425-76,025,367 Size: 25,943 Coding Exon Count: 32 

Page IndexSequence and LinksMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated: 2006-02-27

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:75,998,231-76,025,464)mRNA (may differ from genome)Protein (4550 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneGeneCardsMGIPubMed
Stanford SOURCEUniProtKB

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from GNF1M Mouse Chip

    
     
      
       
     
    
   
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Rinn et. al Sex Gene Expression Data on MOE430A Chip

        
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GNF Expression Atlas Data from U74a Mouse Chip

        
     
    
    
    
   
    
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Affymetrix All Exon Microarrays

           
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.2097-0.394 Picture PostScript Text
3' UTR -453.491194-0.380 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001589 - Actinin_actin-bd_CS
IPR001715 - CH-domain
IPR001101 - Plectin_repeat
IPR018159 - Spectrin/alpha-actinin

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00681 - Plectin repeat

ModBase Predicted Comparative 3D Structure on Q6S385
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologGenome BrowserNo orthologNo orthologGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
Gene SorterGene Sorter  Gene SorterGene Sorter
GenBankRGDEnsembl WormBaseSGD
Protein Sequence Protein Sequence  Protein Sequence
Alignment Alignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0008092 cytoskeletal protein binding

Cellular Component:
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AY480043 - Mus musculus plectin 11 mRNA, complete cds.
AY480042 - Mus musculus plectin 10 mRNA, complete cds.
AY480041 - Mus musculus plectin 9 mRNA, complete cds.
AY480040 - Mus musculus plectin 8 mRNA, complete cds.
AY480039 - Mus musculus plectin 7 mRNA, complete cds.
AY480038 - Mus musculus plectin 6 mRNA, complete cds.
AY480037 - Mus musculus plectin 5 mRNA, complete cds.
AY480036 - Mus musculus plectin 4 mRNA, complete cds.
AY480035 - Mus musculus plectin 3 mRNA, complete cds.
AY480034 - Mus musculus plectin 2 mRNA, complete cds.
AY480033 - Mus musculus plectin 1 mRNA, complete cds.
AF188008 - Mus musculus plectin isoform plec 1,2alpha (Plec1) mRNA, partial cds.
AF188012 - Mus musculus plectin isoform plec 1b (Plec1) mRNA, partial cds.
BC021810 - Mus musculus plectin 1, mRNA (cDNA clone IMAGE:3661265), partial cds.
BC099929 - Mus musculus plectin 1, mRNA (cDNA clone IMAGE:30056202), partial cds.
AK017743 - Mus musculus 8 days embryo whole body cDNA, RIKEN full-length enriched library, clone:5730501J12 product:plectin 1, full insert sequence.
AF188021 - Mus musculus plectin isoform plec 1h (Plec1) mRNA, partial cds.
AF188011 - Mus musculus plectin isoform plec 1b,2alpha (Plec1) mRNA, partial cds.
AF188023 - Mus musculus plectin isoform plec 1j,2alpha,3alpha (Plec1) mRNA, partial cds.
AF188013 - Mus musculus plectin isoform plec 0,1c,2alpha,3alpha (Plec1) mRNA, partial cds.
AF188014 - Mus musculus plectin isoform plec 0,1c (Plec1) mRNA, partial cds.
AK044559 - Mus musculus adult retina cDNA, RIKEN full-length enriched library, clone:A930022N02 product:plectin 1, full insert sequence.
AF188010 - Mus musculus plectin isoform plec 1a (Plec1) mRNA, partial cds.
AF188020 - Mus musculus plectin isoform plec 1g (Plec1) mRNA, partial cds.
AF188015 - Mus musculus plectin isoform plec 1d,2alpha (Plec1) mRNA, partial cds.
AF188016 - Mus musculus plectin isoform plec 1d (Plec1) mRNA, partial cds.
AF188009 - Mus musculus plectin isoform plec 1 (Plec1) mRNA, partial cds.
AF188022 - Mus musculus plectin isoform plec 1i (Plec1) mRNA, partial cds.
AF188017 - Mus musculus plectin isoform plec 1e,2alpha (Plec1) mRNA, partial cds.
AF188018 - Mus musculus plectin isoform plec 1e (Plec1) mRNA, partial cds.
AF188019 - Mus musculus plectin isoform plec 1f (Plec1) mRNA, partial cds.
AF188006 - Mus musculus plectin isoform plec 0,1c,2alpha (Plec1) mRNA, partial cds.
AY312170 - Mus musculus epiplakin (Eppk1) mRNA, complete cds.
AY312170 - Mus musculus epiplakin (Eppk1) mRNA, complete cds.
AY312170 - Mus musculus epiplakin (Eppk1) mRNA, complete cds.
AY312170 - Mus musculus epiplakin (Eppk1) mRNA, complete cds.
AY312170 - Mus musculus epiplakin (Eppk1) mRNA, complete cds.
AY032898 - Mus musculus IMAGE:1064756 plectin mRNA, 3'UTR.
AK137706 - Mus musculus adult female vagina cDNA, RIKEN full-length enriched library, clone:9930104B03 product:plectin 1, full insert sequence.
AY032899 - Mus musculus IMAGE:975524 plectin mRNA, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AY480042
UCSC ID: NM_201393
RefSeq Accession: NM_201393
Protein: Q6S385

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.