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

GO curators for mouse genes have assigned the following annotations to the gene product of Utrn. (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 shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [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 Utrn
  • is located in the following cellular components:
    • dystrophin-associated glycoprotein complex ^[2]
    • neuromuscular junction ^{[3, 4, 5]}
    • synapse ^[1]
• The gene product of Utrn has been shown to bind to the gene products of Dmd, Pgm5, Sgca. ^{[2, 3]}

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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 Utrn:
  • participates in the following biological processes:
    • neuromuscular junction development
    • positive regulation of cell-matrix adhesion
  • performs the following molecular functions:
    • actin filament binding
  • is located in the following cellular components:
    • cortical actin cytoskeleton
    • cytoplasm
    • growth cone
    • neuromuscular junction
    • nucleus
    • plasma membrane
    • protein complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Utrn indicates that it:
  • performs the following molecular functions:
    • actin binding

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References

1. Adams ME et al. (2000) Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin. J Cell Biol, 150:1385-97. (PubMed:10995443)
2. Belkin AM et al. (1995) Association of aciculin with dystrophin and utrophin. J Biol Chem, 270:6328-37. (PubMed:7890770)
3. Matsumura K et al. (1992) Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature, 360:588-91. (PubMed:1461282)
4. Rafael JA et al. (1998) Localization of Dlg at the mammalian neuromuscular junction. Neuroreport, 9:2121-5. (PubMed:9674605)
5. Weatherbee SD et al. (2006) LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction. Development, 133:4993-5000. (PubMed:17119023)

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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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