plectin; PCN; PLTN; hemidesmosomal protein 1; HD1; plectin-1 (PLEC PLEC1)

Function

• interlinks intermediate filaments with microtubules & microfilaments
• anchors intermediate filaments to desmosomes or hemidesmosomes
• N-terminus interacts with actin, integrin beta-4
• C-terminus interacts with vimentin, desmin, GFAP, cytokeratins, lamin B, integrin beta-4
• phosphorylated by cdc2
• phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis (putative)
• phosphorylated upon DNA damage, probably by ATM or ATR
• interacts (via actin-binding domain) with Nesprin-3
• interacts (via CH 1 domain) with VIM (via rod region)

Structure

• homodimer or homotetramer
• the N-terminus interacts with actin
• the C-terminus interacts with vimentin, desmin, GFAP, cytokeratins, lamin B
• both the N-terminus & C-terminus can bind integrin beta-4
• belongs to the plakin or cytolinker family
• contains 1 actin-binding domain
• contains 2 CH (calponin-homology) domains
• contains 33 plectin repeats
• contains 4 spectrin repeats

Compartment

• cytoplasm, cytoskeleton

Alternative splicing

• named isoforms=9
• phosphorylated on Ser-21 & Tyr-26

Expression

• widely expressed with highest levels in muscle, heart, placenta & spinal cord

Pathology

• mutations associated with:
  • epidermolysis bullosa simplex with pyloric atresia
  • epidermolysis bullosa simplex with muscular dystrophy
  • epidermolysis bullosa simplex 1 (Ogna type)

More general terms

• cytoskeletal protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5339
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5339
• OMIM: https://mirror.omim.org/entry/131950
• OMIM: https://mirror.omim.org/entry/226670
• OMIM: https://mirror.omim.org/entry/601282
• OMIM: https://mirror.omim.org/entry/612138
• UniProt: http://www.uniprot.org/uniprot/Q15149.html