Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Fragile_X_syndrome
|
| gptkbp:discoveredBy |
gptkb:Stephen_T._Warren
|
| gptkbp:discoveredIn |
1991
|
| gptkbp:domain |
gptkb:KH_domain
RGG box |
| gptkbp:encodedBy |
gptkb:FMR1_gene
|
| gptkbp:fullName |
Fragile X Mental Retardation Protein
|
| gptkbp:function |
RNA-binding protein
translational repression regulation of synaptic plasticity |
| https://www.w3.org/2000/01/rdf-schema#label |
FMRP
|
| gptkbp:interactsWith |
gptkb:CYFIP1
ribosome FXR1 FXR2 |
| gptkbp:locatedOnChromosome |
Xq27.3
|
| gptkbp:location |
gptkb:cytoplasm
neurons dendritic spines |
| gptkbp:molecularWeight |
~71 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:autism_spectrum_disorder
intellectual disability |
| gptkbp:OMIM |
309550
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:PDB |
4QVZ
|
| gptkbp:postTranslationalModification |
phosphorylation
methylation |
| gptkbp:UniProtID |
gptkb:Q06787
|
| gptkbp:bfsParent |
gptkb:FMR1
|
| gptkbp:bfsLayer |
7
|