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 Tuesday, May 21, 2013.)

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Dsp
  • is located in the following cellular components:
    • basolateral plasma membrane ^[8]
    • cell-cell junction ^[4]
    • desmosome ^{[1, 2, 3]}
    • intercalated disc ^[5]
    • intermediate filament ^[10]
    • mitochondrion ^[6]
• The gene product of Dsp has been shown to bind to the gene products of Myzap. ^[7]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Dsp
  • participates in the following biological processes:
    • adherens junction organization ^[9]
    • cell-cell adhesion ^{[4, 9]}
    • desmosome organization ^{[4, 10]}
    • intermediate filament cytoskeleton organization ^[4]
    • intermediate filament organization ^[10]
    • protein localization to adherens junction ^[10]
    • skin development ^[9]
    • ventricular compact myocardium morphogenesis ^[10]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Dsp:
  • participates in the following biological processes:
    • bundle of His cell to Purkinje myocyte communication
    • keratinocyte differentiation
    • peptide cross-linking
    • regulation of heart rate by cardiac conduction
    • regulation of ventricular cardiac muscle cell action potential
  • performs the following molecular functions:
    • protein binding, bridging
    • protein kinase C binding
    • scaffold protein binding
    • structural molecule activity
  • is located in the following cellular components:
    • cornified envelope
    • desmosome
    • fascia adherens
    • intercalated disc
    • membrane
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Dsp encodes a protein or proteins that contain the following InterPro domains: Plectin repeat, Spectrin/alpha-actinin, indicating that the gene product:
  • is located in the following cellular components:
    • cytoskeleton

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Dsp indicates that it:
  • is located in the following cellular components:
    • cell junction
    • cytoplasm
    • cytoskeleton

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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)

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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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