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

GO curators for mouse genes have assigned the following annotations to the gene product of Fig4. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of August 17, 2009. 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 protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Fig4
  • participates in the following biological processes:
    • locomotory behavior ^[1]
    • negative regulation of myelination ^[2]
    • neuron development ^{[1, 2]}
    • phosphatidylinositol metabolic process ^{[1, 2]}
    • pigmentation ^{[1, 2]}
    • vacuole organization ^[1]
• Researchers have inferred, based on genetic interactions, that the gene product of Fig4
  • participates in the following biological processes:
    • myelin assembly based on interactions with Mtmr2 ^[2]
    • negative regulation of myelination based on interactions with Mtmr2 ^[2]
    • neuron development based on interactions with Mtmr2 ^[2]

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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 Fig4:
  • participates in the following biological processes:
    • positive regulation of neuron projection development
  • performs the following molecular functions:
    • phosphatidylinositol bisphosphate phosphatase activity
    • phosphatidylinositol-3-phosphatase activity
    • phosphatidylinositol-4-phosphate phosphatase activity
  • is located in the following cellular components:
    • endoplasmic reticulum
    • endosome membrane
    • Golgi apparatus
    • recycling endosome

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Summary text based on GO annotations supported by structural data

• Fig4 encodes a protein or proteins that contain the following InterPro domains: Synaptojanin, N-terminal, indicating that the gene product:
  • performs the following molecular functions:
    • phosphoric ester hydrolase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Fig4 indicates that it:
  • participates in the following biological processes:
    • cell death
  • performs the following molecular functions:
    • hydrolase activity
  • is located in the following cellular components:
    • endosome
    • membrane

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References

1. Chow CY et al. (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature, 448:68-72. (PubMed:17572665)
2. Vaccari I et al. (2011) Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies. PLoS Genet, 7:e1002319. (PubMed:22028665)

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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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