desmoplakin (desmoplakin 1 & desmoplakin 2); 250/210 kD paraneoplastic pemphigus antigen (DSP)
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Function
- organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains
- role in attachment of intermediate filaments to the desmosomes & cell surface
- component of desmosomes
- substrate for transglutaminase
Structure
- homodimer
- N-terminal region is required for localization to the desmosomal plaque & interacts with the N-terminal region of plakophilin 1
- C-terminal region interacts with intermediate filaments
- some Gln & Lys are cross-linked to other desmoplakin molecules, to other proteins such as keratin, envoplakin, periplakin & involucrin, & to lipids like omega-hydroxyceramide
- belongs to the plakin or cytolinker family
- contains 17 plectin repeats
- contains 2 spectrin repeats
Compartment
- cell junction, desmosome
- cytoplasm, cytoskeleton
- innermost portion of the desmosomal plaque
Alternative splicing
2 variants: desmoplakin 1 & desmoplakin 2
Expression
- desmoplakin 1 is apparently an obligate constituent of all desmosomes
- desmoplakin 2 is found predominantly in tissues & cells of stratified origin
Pathology
- defects associated with:
Genetics
gene locus 6p24
More general terms
More specific terms
Component of
References
- ↑ Green KJ et al Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 265:2603 1990 PMID: https://www.ncbi.nlm.nih.gov/pubmed/1689290
- ↑ UniProt http://www.uniprot.org/uniprot/P15924.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=DSP
- ↑ Wikipedia; Note: desmoplakin entry http://en.wikipedia.org/wiki/desmoplakin
Database
- UniProt: http://www.uniprot.org/uniprot/P15924.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1832
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1832
- OMIM: https://mirror.omim.org/entry/125647
- OMIM: https://mirror.omim.org/entry/605676
- OMIM: https://mirror.omim.org/entry/607450
- OMIM: https://mirror.omim.org/entry/607655
- OMIM: https://mirror.omim.org/entry/609638