|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PPD
gptkb:FMR1P
gptkb:FMR1_protein
gptkb:FMRP
gptkb:FRAXA
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:fragile_X-associated_primary_ovarian_insufficiency
gptkb:fragile_X-associated_tremor/ataxia_syndrome
gptkb:fragile_X_syndrome
|
|
gptkbp:biologicalProcess
|
gptkb:synaptic_plasticity
neuronal development
RNA binding
mRNA transport
translational regulation
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
gptkb:cytoplasm
dendrite
polyribosome
|
|
gptkbp:discoveredBy
|
gptkb:Stephen_T._Warren
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:encodes
|
gptkb:FMRP
|
|
gptkbp:Entrez_Gene_ID
|
2332
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
|
|
gptkbp:fullName
|
gptkb:fragile_X_mental_retardation_1
|
|
gptkbp:function
|
RNA binding
translational repression
regulation of synaptic plasticity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
gptkb:FMR1P1
gptkb:FMR1P2
gptkb:FMR1P3
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:3775
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FMR1
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:length
|
38,000 bp
|
|
gptkbp:locatedOnChromosome
|
X
Xq27.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
developmental delay
CGG trinucleotide repeat expansion
|
|
gptkbp:numberOfExons
|
17
|
|
gptkbp:OMIM
|
309550
|
|
gptkbp:orthologInDrosophila
|
gptkb:dfmr1
|
|
gptkbp:orthologInMouse
|
gptkb:Fmr1
|
|
gptkbp:product
|
gptkb:fragile_X_mental_retardation_protein
|
|
gptkbp:regulates
|
mRNA translation
|
|
gptkbp:UniProtID
|
gptkb:Q06787
|
|
gptkbp:bfsParent
|
gptkb:Xq28
|
|
gptkbp:bfsLayer
|
6
|