|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Fragile_X_syndrome
Fragile X-associated tremor/ataxia syndrome
primary ovarian insufficiency
|
|
gptkbp:component
|
ribonucleoprotein complex
|
|
gptkbp:discoveredBy
|
gptkb:Stephen_T._Warren
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:domain
|
gptkb:KH_domain
RGG box
|
|
gptkbp:encodedBy
|
gptkb:FMR1_gene
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
|
|
gptkbp:fullName
|
Fragile X Mental Retardation Protein
|
|
gptkbp:function
|
RNA binding
translational repression
regulation of synaptic plasticity
mRNA binding
|
|
gptkbp:GOProcess
|
regulation of translation
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FMRP protein
|
|
gptkbp:interactsWith
|
gptkb:CYFIP1
FXR1
FXR2
|
|
gptkbp:locatedOnChromosome
|
Xq27.3
|
|
gptkbp:location
|
gptkb:nucleus
gptkb:cytoplasm
dendrites
|
|
gptkbp:molecularWeight
|
about 71 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
CGG trinucleotide repeat expansion
|
|
gptkbp:OMIM
|
309550
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:PDB
|
4QVZ
|
|
gptkbp:postTranslationalModification
|
phosphorylation
|
|
gptkbp:regulates
|
gptkb:axonal_transport
neuronal development
mRNA stability
synaptic function
dendritic spine morphology
local protein synthesis
mGluR-dependent long-term depression
synaptic vesicle cycling
|
|
gptkbp:subcellularLocation
|
neuronal granules
polyribosomes
|
|
gptkbp:UniProtID
|
gptkb:Q06787
|
|
gptkbp:bfsParent
|
gptkb:RRM_domain
|
|
gptkbp:bfsLayer
|
7
|