|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:FUS_protein
gptkb:TLS_protein
|
|
gptkbp:associatedWith
|
amyotrophic lateral sclerosis
frontotemporal dementia
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:diseaseRole
|
oncogenic fusion protein in sarcomas
|
|
gptkbp:domain
|
gptkb:RRM_domain
zinc finger domain
glycine-rich region
|
|
gptkbp:encodedBy
|
gptkb:FUS_gene
|
|
gptkbp:Entrez_Gene_ID
|
2521
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
DNA repair
RNA-binding protein
transcription regulation
|
|
gptkbp:fusionPartners
|
gptkb:CHOP_gene
gptkb:ERG_gene
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Fused in Sarcoma protein
|
|
gptkbp:interactsWith
|
gptkb:SMN_protein
gptkb:RNA_polymerase_II
gptkb:EWSR1
gptkb:TAF15
|
|
gptkbp:involvedIn
|
transcriptional activation
DNA damage response
mRNA splicing
|
|
gptkbp:locale
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:locatedOnChromosome
|
gptkb:16p11.2
|
|
gptkbp:molecularWeight
|
53 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_ALS
gptkb:sporadic_ALS
gptkb:FTD
|
|
gptkbp:OMIM
|
137070
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:pathology
|
cytoplasmic inclusions in ALS
protein aggregation in neurons
|
|
gptkbp:PDB
|
gptkb:2LCW
2M5N
2N3P
5W3N
|
|
gptkbp:postTranslationalModification
|
phosphorylation
methylation
ubiquitination
|
|
gptkbp:reviewedBy
|
gptkb:UniProtKB/Swiss-Prot
|
|
gptkbp:sequence
|
526 amino acids
|
|
gptkbp:subcellularLocation
|
gptkb:stress_granules
nuclear speckles
|
|
gptkbp:UniProtID
|
gptkb:P35637
|
|
gptkbp:bfsParent
|
gptkb:FUS_protein
|
|
gptkbp:bfsLayer
|
6
|