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

GO curators for mouse genes have assigned the following annotations to the gene product of Des. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [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 Des
  • is located in the following cellular components:
    • contractile fiber ^[2]
    • cytoskeleton ^[4]
    • fascia adherens ^[7]
    • intermediate filament ^[6]
    • intracellular ^[1]
    • neuromuscular junction ^[4]
    • sarcolemma ^[4]
    • Z disc ^{[2, 3, 4, 5]}

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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 Des:
  • performs the following molecular functions:
    • cytoskeletal protein binding
  • is located in the following cellular components:
    • gap junction
    • type III intermediate filament
    • Z disc

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Summary text based on GO annotations supported by structural data

• Des encodes a protein or proteins that contain the following InterPro domains: Filament, Intermediate filament head, DNA-binding domain, Intermediate filament protein, Intermediate filament protein, conserved site, indicating that the gene product:
  • performs the following molecular functions:
    • structural molecule activity

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Summary text for additional MGI annotations

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

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References

1. Dominov JA et al. (2001) Pro- and anti-apoptotic members of the bcl-2 family in skeletal muscle: A distinct role for bcl-2 in later stages of myogenesis Dev Dyn, 220:18-26. (PubMed:11146504)
2. Koh TJ et al. (2004) Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am J Physiol Cell Physiol, 286:C713-22. (PubMed:14627610)
3. Kramerova I et al. (2004) Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Hum Mol Genet, 13:1373-88. (PubMed:15138196)
4. Poon E et al. (2002) Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J Biol Chem, 277:3433-9. (PubMed:11694502)
5. Yang Q et al. (1999) In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy. Circ Res, 85:841-7. (PubMed:10532952)
6. 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)
7. Zhang JQ et al. (2001) Ultrastructural and Biochemical Localization of N-RAP at the Interface between Myofibrils and Intercalated Disks in the Mouse Heart. Biochemistry, 40:14898-906. (PubMed:11732910)

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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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