|Application ||WB, IHC, E|
|Other Accession||NP_000359, 7248, 64930 (mouse)|
|Predicted||Mouse, Rat, Dog|
|Calculated MW||129767 Da|
|Other Names||Hamartin, Tuberous sclerosis 1 protein, TSC1, KIAA0243, TSC|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-Hamartin / TSC1 (isoform 1) Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|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.|
|Cellular Location||Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes|
|Tissue Location||Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells|
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Provided below are standard protocols that you may find useful for product applications.
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.
Polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes. Mehta MS, et al. Breast Cancer Res Treat, 2010 Jul 25. PMID 20658316.
A Large-scale genetic association study of esophageal adenocarcinoma risk. Liu CY, et al. Carcinogenesis, 2010 Jul. PMID 20453000.
Tandem affinity purification and identification of the human TSC1 protein complex. Guo L, et al. Acta Biochim Biophys Sin (Shanghai), 2010 Apr. PMID 20383465.
FOXO3a regulates glycolysis via transcriptional control of tumor suppressor TSC1. Khatri S, et al. J Biol Chem, 2010 May 21. PMID 20371605.
Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation. Blyth M, et al. J Neurol Neurosurg Psychiatry, 2010 Mar. PMID 20185476.
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