|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:LAM
gptkb:hamartin
TSC
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:tuberous_sclerosis_complex
gptkb:autism_spectrum_disorder
gptkb:lymphangioleiomyomatosis
gptkb:subependymal_giant_cell_astrocytoma
epilepsy
intellectual disability
cortical tubers
renal angiomyolipoma
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for TSC1 mutations
|
|
gptkbp:discoveredBy
|
gptkb:European_Chromosome_9_Tuberous_Sclerosis_Consortium
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
gptkb:hamartin
|
|
gptkbp:Entrez_Gene_ID
|
7248
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skin
gptkb:kidney
brain
heart
|
|
gptkbp:fullName
|
gptkb:tuberous_sclerosis_1
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:12362
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TSC1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:TSC2
|
|
gptkbp:length
|
1164 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:9q34
|
|
gptkbp:mutationAssociatedWith
|
gptkb:tuberous_sclerosis
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
605284
|
|
gptkbp:orthologInMouse
|
gptkb:Tsc1
|
|
gptkbp:pathway
|
gptkb:mTOR_signaling_pathway
gptkb:PI3K-Akt_signaling_pathway
cell growth regulation
|
|
gptkbp:postTranslationalModification
|
phosphorylation
sumoylation
ubiquitination
|
|
gptkbp:proteinFamily
|
coiled-coil domain
tuberin interaction domain
|
|
gptkbp:regulates
|
gptkb:mTOR_pathway
|
|
gptkbp:UniProtID
|
gptkb:Q92574
|
|
gptkbp:bfsParent
|
gptkb:PI3K/AKT/mTOR_pathway
gptkb:mTOR_pathway
|
|
gptkbp:bfsLayer
|
5
|