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

GO curators for mouse genes have assigned the following annotations to the gene product of Mpv17. (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 mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [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 Mpv17
  • participates in the following biological processes:
    • reactive oxygen species metabolic process ^[5]
  • is located in the following cellular components:
    • mitochondrion ^[2]
    • peroxisome ^[5]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Mpv17
  • participates in the following biological processes:
    • cellular response to reactive oxygen species ^[1]
    • glomerular basement membrane development ^[1]
    • inner ear development ^[1]
    • regulation of reactive oxygen species metabolic process ^[1]
    • sensory perception of sound ^[4]
  • is located in the following cellular components:
    • mitochondrion ^[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 Mpv17:
  • participates in the following biological processes:
    • homeostatic process
    • mitochondrial genome maintenance
  • is located in the following cellular components:
    • mitochondrial inner membrane
    • mitochondrion

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Summary text based on GO annotations supported by structural data

• Mpv17 encodes a protein or proteins that contain the following InterPro domains: Mpv17/PMP22, indicating that the gene product:
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Mpv17 indicates that it:
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Meyer zum Gottesberge AM et al. (2005) Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations. Histochem Cell Biol, 124:507-16. (PubMed:16041630)
2. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)
3. Spinazzola A et al. (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet, 38:570-5. (PubMed:16582910)
4. zum Gottesberge AMM et al. (1998) Loss of auditory function in transgenic Mpv17-deficient mice Hered Deaf News, 15:22.
5. Zwacka RM et al. (1994) The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species. EMBO J, 13:5129-34. (PubMed:7957077)

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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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