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

GO curators for mouse genes have assigned the following annotations to the gene product of Mtm1. (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 dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [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 Mtm1
  • is located in the following cellular components:
    • cytoplasm ^[4]
    • I band ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Mtm1
  • participates in the following biological processes:
    • mitochondrion distribution ^{[2, 3]}
    • mitochondrion morphogenesis ^[3]
    • muscle cell homeostasis ^[1]

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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 Mtm1:
  • participates in the following biological processes:
    • endosome to lysosome transport
    • intermediate filament organization
    • mitochondrion distribution
    • mitochondrion morphogenesis
    • phosphatidylinositol dephosphorylation
    • protein dephosphorylation
    • regulation of vacuole organization
  • performs the following molecular functions:
    • intermediate filament binding
    • phosphatidylinositol binding
    • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
    • phosphatidylinositol-3-phosphatase activity
    • phosphoprotein phosphatase activity
  • is located in the following cellular components:
    • cytoplasm
    • filopodium
    • late endosome
    • plasma membrane
    • ruffle

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Summary text based on GO annotations supported by structural data

• Mtm1 encodes a protein or proteins that contain the following InterPro domains: GRAM, Myotubularin phosphatase domain, Myotubularin-related, Protein-tyrosine phosphatase, active site, Protein-tyrosine phosphatase, receptor/non-receptor type, Protein-tyrosine/Dual-specificity phosphatase, indicating that the gene product:
  • participates in the following biological processes:
    • dephosphorylation
    • peptidyl-tyrosine dephosphorylation
  • performs the following molecular functions:
    • phosphatase activity
    • protein tyrosine phosphatase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Mtm1 indicates that it:
  • participates in the following biological processes:
    • protein transport
    • transport
  • performs the following molecular functions:
    • hydrolase activity
  • is located in the following cellular components:
    • cell projection
    • endosome
    • membrane

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References

1. Buj-Bello A et al. (2002) The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A, 99:15060-5. (PubMed:12391329)
2. Buj-Bello A et al. (2008) AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet, 17:2132-43. (PubMed:18434328)
3. Hnia K et al. (2011) Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest, 121:70-85. (PubMed:21135508)
4. Laporte J et al. (2002) The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci, 115:3105-17. (PubMed:12118066)

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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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