FMR1 gene

GPTKB entity

Statements (55)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:FRAXA
Fragile X syndrome gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:Fragile_X_syndrome
Fragile X-associated primary ovarian insufficiency
Fragile X-associated tremor/ataxia syndrome
gptkbp:biologicalProcess regulates mRNA transport and translation
gptkbp:discoveredBy gptkb:Stephen_T._Warren
gptkbp:discoveredIn 1991
gptkbp:encodes gptkb:FMRP
gptkbp:Entrez_Gene_ID 2332
gptkbp:fullMutationCGGRepeatRange >200 repeats
gptkbp:fullName Fragile X Mental Retardation 1
gptkbp:function RNA binding
translational repression
regulation of synaptic plasticity
gptkbp:gene gptkb:FMR1
gptkbp:geneType protein-coding
gptkbp:HGNC_ID gptkb:HGNC:3775
https://www.w3.org/2000/01/rdf-schema#label FMR1 gene
gptkbp:inheritance X-linked dominant
gptkbp:length 632 amino acids
gptkbp:lengthOfGene ~38 kb
gptkbp:locatedOnChromosome gptkb:X_chromosome
Xq27.3
gptkbp:methylationStatus hypermethylation in full mutation
gptkbp:mutationAssociatedWith intellectual disability
CGG trinucleotide repeat expansion
autism spectrum features
loss of FMRP expression
gptkbp:normalCGGRepeatRange 5-44 repeats
gptkbp:numberOfExons 17
gptkbp:OMIM 309550
gptkbp:orthologInMouse gptkb:Fmr1
gptkbp:orthologInZebrafish fmr1
gptkbp:pathway neurodevelopment
mRNA transport
synaptic signaling
gptkbp:premutationCGGRepeatRange 55-200 repeats
gptkbp:product Fragile X Mental Retardation Protein
gptkbp:repeatRegion 5' UTR
gptkbp:subcellularLocation gptkb:cytoplasm
neuronal dendrites
gptkbp:tissue_specificity gptkb:testis
brain
gptkbp:UniProtID gptkb:Q06787
gptkbp:bfsParent gptkb:CGG
gptkb:FMR1P
gptkb:FMR1_protein
gptkb:FMRP
gptkb:PPM-X_syndrome_gene
gptkb:fragile_X_mental_retardation_protein
gptkb:FMRP_protein
gptkbp:bfsLayer 8