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

GO curators for mouse genes have assigned the following annotations to the gene product of Fmr1. (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.] The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

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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 Fmr1
  • participates in the following biological processes:
    • negative regulation of translational initiation ^[2]
  • is located in the following cellular components:
    • cytoplasmic stress granule ^[1]
    • mRNA cap binding complex ^[2]
    • neuronal ribonucleoprotein granule ^[1]
    • nucleus ^[4]
• The gene product of Fmr1 has been shown to bind to the gene products of Cyfip1, Cyfip2. ^{[2, 3]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Fmr1
  • participates in the following biological processes:
    • central nervous system development ^[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 Fmr1:
  • performs the following molecular functions:
    • RNA binding
  • is located in the following cellular components:
    • dendrite
    • dendritic shaft
    • dendritic spine
    • neuron projection
    • polysome
    • synapse

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Fmr1 indicates that it:
  • participates in the following biological processes:
    • mRNA transport
    • transport
  • is located in the following cellular components:
    • cytoplasm

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References

1. Kunde SA et al. (2011) The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet, 20:4916-31. (PubMed:21933836)
2. Napoli I et al. (2008) The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell, 134:1042-54. (PubMed:18805096)
3. Schenck A et al. (2001) A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A, 98:8844-9. (PubMed:11438699)
4. Willemsen R et al. (2003) The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet, 12:949-59. (PubMed:12700164)

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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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