tuberous sclerosis 1

Symbol

TSC1 (may also be known as: None)

Organism

Human

Description

This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

Orthologs

SymbolSpecies
Tsc1 Drosophila melanogaster
tsc1b Danio rerio
Tsc1 Mus musculus
Tsc1 Rattus norvegicus
tsc1 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3445 Gene expression of TSC1 increases with age Molecular skin Human TSC1 —

GO Terms

GO IDGO TermGO Category
GO:0001822 kidney development biological_process
GO:0001843 neural tube closure biological_process
GO:0001952 regulation of cell-matrix adhesion biological_process
GO:0006407 rRNA export from nucleus biological_process
GO:0006417 regulation of translation biological_process
GO:0006813 potassium ion transport biological_process
GO:0007050 cell cycle arrest biological_process
GO:0007160 cell-matrix adhesion biological_process
GO:0007399 nervous system development biological_process
GO:0008285 negative regulation of cell proliferation biological_process
GO:0008286 insulin receptor signaling pathway biological_process
GO:0009790 embryo development biological_process
GO:0017148 negative regulation of translation biological_process
GO:0021766 hippocampus development biological_process
GO:0021987 cerebral cortex development biological_process
GO:0030030 cell projection organization biological_process
GO:0032007 negative regulation of TOR signaling cascade biological_process
GO:0032862 activation of Rho GTPase activity biological_process
GO:0032868 response to insulin stimulus biological_process
GO:0032956 regulation of actin cytoskeleton organization biological_process
GO:0042552 myelination biological_process
GO:0043666 regulation of phosphoprotein phosphatase activity biological_process
GO:0045792 negative regulation of cell size biological_process
GO:0045859 regulation of protein kinase activity biological_process
GO:0050808 synapse organization biological_process
GO:0050821 protein stabilization biological_process
GO:0051291 protein heterooligomerization biological_process
GO:0051492 regulation of stress fiber assembly biological_process
GO:0051894 positive regulation of focal adhesion assembly biological_process
GO:0055007 cardiac muscle cell differentiation biological_process
GO:0005624 membrane fraction cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005792 microsome cellular_component
GO:0005829 cytosol cellular_component
GO:0005884 actin filament cellular_component
GO:0005938 cell cortex cellular_component
GO:0016020 membrane cellular_component
GO:0030027 lamellipodium cellular_component
GO:0030426 growth cone cellular_component
GO:0033596 TSC1-TSC2 complex cellular_component
GO:0043234 protein complex cellular_component
GO:0005515 protein binding molecular_function
GO:0030695 GTPase regulator activity molecular_function
GO:0032794 GTPase activating protein binding molecular_function
GO:0047485 protein N-terminus binding molecular_function
GO:0051087 chaperone binding molecular_function