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Gene Ontology Classifications
Symbol
Name
ID
Dsp
desmoplakin
MGI:109611

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Dsp. (This text reflects annotations as of Thursday, January 16, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Acehan D et al. (2008) Plakoglobin is required for effective intermediate filament anchorage to desmosomes. J Invest Dermatol, 128:2665-75. (PubMed:18496566)
  2. Cheng X et al. (2004) Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol, 24:154-63. (PubMed:14673151)
  3. Den Z et al. (2006) Desmocollin 3 is required for pre-implantation development of the mouse embryo. J Cell Sci, 119:482-9. (PubMed:16418220)
  4. Gallicano GI et al. (1998) Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol, 143:2009-22. (PubMed:9864371)
  5. Goossens S et al. (2007) A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs. J Cell Sci, 120:2126-36. (PubMed:17535849)
  6. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
  7. Seeger TS et al. (2010) Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. Circ Res, 106:880-90. (PubMed:20093627)
  8. Tanaka Y et al. (2003) Expressions of hepatobiliary organic anion transporters and bilirubin-conjugating enzyme in differentiating embryonic stem cells. Biochem Biophys Res Commun, 309:324-30. (PubMed:12951053)
  9. Vasioukhin V et al. (2001) Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol, 3:1076-85. (PubMed:11781569)
  10. Yang Z et al. (2006) Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res, 99:646-55. (PubMed:16917092)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory