Gene table of TSC1 : tuberous sclerosis 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with TSC1OMIM linkNumber of associated genesgenes
607341FOCAL CORTICAL DYSPLASIA OF TAYLOROMIM link to OMIM 1TSC1
PS191100TUBEROUS SCLEROSISClinVar, OMIM, HUMSAVAR link to OMIM 4TSC2, IFNG, SERPINC1, TSC1
606690LYMPHANGIOLEIOMYOMATOSISClinVar, OMIM link to OMIM 2TSC2, TSC1

Download the gene annotation in CSV format

Annotation of the gene TSC1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Insulin signaling pathwayhsa049105.55
AMPK signaling pathwayhsa041525.8
Choline metabolism in cancerhsa052316.09
mTOR signaling pathwayhsa041506.72
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
MacroautophagyR-HSA-16328526.92
Transcriptional Regulation by TP53R-HSA-37009896.73
Inhibition of TSC complex formation by PKBR-HSA-16518111.4
Energy dependent regulation of mTOR by LKB1-AMPKR-HSA-3809728.18
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
Generic Transcription PathwayR-HSA-2124363.86
Gene ExpressionR-HSA-741602.72
Cellular responses to stressR-HSA-22627524.56
IRS-mediated signallingR-HSA-1123994.87
PI3K CascadeR-HSA-1097046.68
IGF1R signaling cascadeR-HSA-24289244.85
PKB-mediated eventsR-HSA-1097037.66
IRS-related events triggered by IGF1RR-HSA-24289284.85
TP53 Regulates Metabolic GenesR-HSA-56288976.73
mTOR signallingR-HSA-1651597.7
Signaling by Insulin receptorR-HSA-747524.73
Signal TransductionR-HSA-1625821.78
Insulin receptor signalling cascadeR-HSA-747514.85
Associated GO terms for Molecular function
GO termGO IDGO IC
chaperone bindingGO:00510875.34
protein N-terminus bindingGO:00474855.11
enzyme regulator activityGO:00302342.85
GTPase activating protein bindingGO:00327947.1
GTPase regulator activityGO:00306954.01
bindingGO:00054880.18
protein bindingGO:00055150.46
molecular function regulatorGO:00987722.51
nucleoside-triphosphatase regulator activityGO:00605893.92