|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alias
|
gptkb:ALS10
gptkb:TARDBP
gptkb:TAR_DNA-binding_protein
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:inclusion_body_myopathy
amyotrophic lateral sclerosis
frontotemporal dementia
|
|
gptkbp:discoveredBy
|
gptkb:Jean-Pierre_Julien
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodedBy
|
gptkb:TARDBP_gene
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000120948
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:spinal_cord
brain
liver
|
|
gptkbp:fullName
|
gptkb:TAR_DNA-binding_protein_43
|
|
gptkbp:function
|
regulation of gene expression
splicing regulation
RNA-binding
mRNA transport
microRNA biogenesis
|
|
gptkbp:HGNC_ID
|
11574
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TDP43
|
|
gptkbp:interactsWith
|
gptkb:RNA_polymerase_II
gptkb:FUS
gptkb:SOD1
gptkb:UBQLN2
gptkb:hnRNPs
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_1p36.22
|
|
gptkbp:location
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:molecularWeight
|
43 kDa
|
|
gptkbp:mutationAssociatedWith
|
neurodegeneration
protein aggregation
cytoplasmic mislocalization
|
|
gptkbp:OMIM
|
605078
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:PDB
|
4BS2
|
|
gptkbp:postTranslationalModification
|
phosphorylation
cleavage
ubiquitination
|
|
gptkbp:RefSeq
|
gptkb:NP_031401
|
|
gptkbp:reviewedBy
|
gptkb:Journal_of_Biological_Chemistry
gptkb:Acta_Neuropathologica
gptkb:Brain_Research
gptkb:Nature_Neuroscience
neurons
|
|
gptkbp:structure
|
contains RNA recognition motifs
contains glycine-rich domain
|
|
gptkbp:UniProtID
|
gptkb:Q13148
|
|
gptkbp:bfsParent
|
gptkb:TARDBP
|
|
gptkbp:bfsLayer
|
5
|