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desmoplakin (desmoplakin 1 & desmoplakin 2); 250/210 kD paraneoplastic pemphigus antigen (DSP)
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:
a) palmoplantar keratoderma striate type 2
b) dilated cardiomyopathy with woolly hair & keratoderma (DCWHK)
c) familial arrhythmogenic right ventricular dysplasia-8 (ARVD8)
d) skin fragility-woolly hair syndrome (SFWHS)
e) epidermolysis bullosa lethal acantholytic
Genetics: gene locus 6p24
Specific
desmoplakin-3; catenin gamma; junction plakoglobin (JUP, CTNNG DP3)
General
cytoskeletal protein
Properties
SIZE: entity length = 2871 aa
MW = 332 kD
COMPARTMENT: cytoplasm
MOTIF: Globular 1 {1-1056}
MOTIF: plakophilin 1... interaction {1-584}
Ser phosphorylation site {S22}
Tyr phosphorylation site {Y28}
Tyr phosphorylation site {Y56}
Ser phosphorylation site {S165}
Ser phosphorylation site {S166}
Ser phosphorylation site {S176}
Spectrin {347-447}
Spectrin {858-952}
coiled coil {1018-1945}
MOTIF: Central fibrous rod {1057-1945}
Thr phosphorylation site {T1220}
Ser phosphorylation site {S1225}
Globular 2 {1946-2871}
MOTIF: Plectin {2009-2045}
Ser phosphorylation site {S2024}
Plectin {2046-2083}
Plectin {2084-2121}
Plectin {2122-2159}
Plectin {2163-2197}
Plectin {2198-2233}
Ser phosphorylation site {S2209}
Plectin {2251-2288}
Tyr phosphorylation site {Y2275}
Plectin {2289-2326}
Plectin {2327-2364}
Plectin {2365-2402}
Plectin {2406-2440}
Plectin {2456-2493}
Plectin {2507-2544}
Plectin {2610-2647}
Plectin {2648-2685}
Plectin {2724-2761}
Plectin {2762-2799}
Ser phosphorylation site {S2815}
Ser phosphorylation site {S2820}
Ser phosphorylation site {S2821}
G-S-R-[SR] repeats {2824-2847}
Ser phosphorylation site {S2825}
Ser phosphorylation site {S2849}
Thr phosphorylation site {T2853}
Ser phosphorylation site {S2857}
Ser phosphorylation site {S2868}
Database Correlations
OMIM correlations
MORBIDMAP 125647
UniProt P15924
Pfam PF00681
Entrez Gene 1832
Kegg hsa:1832
References
- Green KJ et al
Structure of the human desmoplakins. Implications for
function in the desmosomal plaque.
J Biol Chem 265:2603 1990
PMID: 1689290
- UniProt :accession P15924
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DSP
- Wikipedia; Note: desmoplakin entry
http://en.wikipedia.org/wiki/desmoplakin
Component-of
desmoplakin/prednisolone
desmosome