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

GO curators for mouse genes have assigned the following annotations to the gene product of Opa3. (This text reflects annotations as of Wednesday, August 14, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of November 19, 2012. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

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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 Opa3
  • is located in the following cellular components:
    • mitochondrion ^{[2, 3]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Opa3
  • participates in the following biological processes:
    • growth ^[1]
    • mitochondrion morphogenesis ^[3]
    • neuromuscular process ^[1]
    • regulation of lipid metabolic process ^[4]

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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 Opa3:
  • participates in the following biological processes:
    • visual perception
  • is located in the following cellular components:
    • mitochondrion

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Summary text for additional MGI annotations

• Annotations directly to molecular function for the gene Opa3 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.

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References

1. Davies VJ et al. (2008) A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain, 131:368-80. (PubMed:18222992)
2. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)
3. Powell KA et al. (2011) Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Invest Ophthalmol Vis Sci, 52:4369-80. (PubMed:21613372)
4. Wells T et al. (2012) Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Hum Mol Genet, 21:4836-44. (PubMed:22869679)

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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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