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Gene Ontology Classifications
Symbol
Name
ID
Fmr1
fragile X mental retardation syndrome 1
MGI:95564

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 Tuesday, May 26, 2015.)
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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Cook D et al. (2011) Fragile X related protein 1 clusters with ribosomes and messenger RNAs at a subset of dendritic spines in the mouse hippocampus. PLoS One, 6:e26120. (PubMed:22022532)
  2. Davidovic L et al. (2007) The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules. Hum Mol Genet, 16:3047-58. (PubMed:17881655)
  3. Derlig K et al. (2013) Identification and characterisation of Simiate, a novel protein linked to the fragile X syndrome. PLoS One, 8:e83007. (PubMed:24349419)
  4. Dolan BM et al. (2013) Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486. Proc Natl Acad Sci U S A, 110:5671-6. (PubMed:23509247)
  5. 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)
  6. 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)
  7. 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)
  8. Wang W et al. (2012) DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis. EMBO J, 31:3655-66. (PubMed:22863780)
  9. 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
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory