Gene content    
TSC1 ( by HUGO)
Tuberous Sclerosis 1
Tumor suppressor gene
Tuberous Sclerosis 1
TSC
Tuberous Sclerosis 1 Protein
LAM
hamartin
Tumor Suppressor
KIAA0243
NCBI: 9q34    Ensembl: 9q34.13
TSC1_HUMANSize: 1164 amino acidsMass: 129767 Da

  • Subunit: Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self-aggregates. Interacts with DOCK7. Interacts with FBXW5 and TBC1D7
  • Tissue specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including TSC1: mTOR Signaling in human mouse rat
  • Function:
    UniProtKB/Swiss-Prot Summary: TSC1_HUMAN, Q92574 Function: In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR007483HamartinHamartinFamily
    BlocksIPB007483HamartinHamartin

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process activation of Rho GTPase activity IDA GOA 10806479
    cell-matrix adhesion IMP GOA 10806479
    negative regulation of cell proliferation IMP GOA 10915759
    negative regulation of TOR signaling IMP GOA 17308101
    negative regulation of translation IMP GOA 17308101
    positive regulation of focal adhesion assembly IDA GOA 10806479
    protein stabilization IDA GOA 11175345
    regulation of cell-matrix adhesion IMP GOA 10806479
    regulation of phosphoprotein phosphatase activity IMP GOA 17308101
    regulation of stress fiber assembly IDA GOA 10806479
    regulation of translation IDA GOA 17308101
    response to insulin IDA GOA 16996505
    rRNA export from nucleus IMP GOA 17308101
    Cellular Component cell cortex IDA GOA 10806479
    colocalizes_with actin filament IDA GOA 10806479
    cytoplasm IDA GOA 9580671
    cytosol IDA GOA 10585443
    lamellipodium IDA GOA 10806479
    membrane IDA GOA 16636147
    protein complex IDA GOA 10585443
    TSC1-TSC2 complex IDA GOA 9580671
    Molecular Function chaperone binding IPI GOA 10585443
    protein binding IPI GOA 10585443
    protein N-terminus binding IPI GOA 10806479

    Disorder & Mutation    
    Source Disease
    Genatlastuberous sclerosis 1,characterized by the development of hamartomas in cerebral cortex responsible of seizures retardation and mental disorder including autism,cortical tuber,hamartomas in other organs,including subependymal nodules,facial angiofibromas,subungual fibromas,forehead plaques,shagreen patches,cardiac rhabdomyomas and renal angiomyololipomas
    SWISS-PROTTuberous sclerosis 1 (TSC1) [MIM:191100]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. Note=The disease is caused by mutations affecting the gene represented in this entry

    TSC1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene