FMR1 - Fragile X mental retardation protein 1 - human protein (Function)
 
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FMR1 »  Fragile X mental retardation protein 1  (FMRP)
 
Gene name:  FMR1
Family name: FMR1
Entry whose protein(s) existence is based on evidence at protein level
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1 303 8
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Function

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Overview 
Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C).  
  • CuratedUniProtKB
GO molecular function 
mRNA bindingdefinition[GO:0003729]  
1
  • TASPINC
Protein bindingdefinition[GO:0005515]  
3
  • IPIHGNC
  • IPIIntAct
RNA bindingdefinition[GO:0003723]  
1
  • TASPINC
GO biological process 
Central nervous system developmentdefinition[GO:0007417] silver  
  • IEAOrtholog Compara
mRNA transportdefinition[GO:0051028]  
  • IEAUniProtKB KW
Negative regulation of translational initiationdefinition[GO:0045947]  
  • ISSOrtholog Curator
Note 
RNA-binding activity is inhibited by RANBP9.  
  • CuratedUniProtKB
The mechanism of the severe phenotype in the Asn-304 patient lies in the sequestration of bound mRNAs in nontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via alternate mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome. Asn-304 mutation maps to a position within the second KH domain of FMRP that is critical for stabilizing sequence-specific RNA-protein interactions. Asn-304 mutation abrogates the association of the FMRP KH 2 domain with its target, kissing complex RNA.  
  • CuratedUniProtKB
 

Keywords

Biological process 
Transport  definition   [KW-0813]
mRNA transport  definition   [KW-0509]
Molecular function 
Repressor  definition   [KW-0678]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: FMR1
GenomeRNAi: 2332
PRO: PR:Q06787