Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene. TSC1 functions as a co-chaperone which inhibits the ATPase activity of the chaperone Hsp90 (heat shock protein-90) and decelerates its chaperone cycle. Tsc1 functions as a facilitator of Hsp90 in chaperoning the kinase and non-kinase clients including Tsc2, therefore preventing their ubiquitination and degradation in the proteasome. TSC1, TSC2 and TBC1D7 is a multi-protein complex also known as the TSC complex. This complex negatively regulates mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a tumor suppressor. Defects in this gene can cause tuberous sclerosis, due to a functional impairment of the TSC complex. Defects in TSC1 may also be a cause of focal cortical dysplasia. TSC1 may be involved in protecting brain neurons in the CA3 region of the hippocampus from the effects of stroke.
Background References
1. Volovelsky O. et. al. Hamartin regulates cessation of mouse nephrogenesis independently of Mtor. Proc Natl Acad Sci U S A. 2018 Jun
2. Jozwiak J. Hamartin and tuberin: working together for tumour suppression. Int J Cancer. 2006 Jan
Western blot analysis of Hamartin on different lysates with Rabbit anti-Hamartin antibody (HA600004) at 1/5,000 dilution.
Lane 1: 293T (Human embryonic kidney cell) cell lysate Lane 2: NIH/3T3 (Mouse fibroblast) cell lysate
Lysates/proteins at 15 µg/Lane. Exposure time: 3 minutes; ECL: K1801
Blocking: 5% NFDM/TBST, 1 hour at room temperature Primary antibody: HA600004, 1/5,000 in primary antibody dilution buffer (K1803), overnight at 4 ℃ Secondary antibody: Goat anti-Rabbit IgG-HRP (HA1006), 1/50,000 in 5% NFDM/TBST, 1 hour at room temperature
Predicted band size: 130 kDa Observed band size: 150 kDa
Western blot analysis of Hamartin on Mouse brain tissue lysate with Rabbit anti-Hamartin antibody (HA600004) at 1/5,000 dilution.
Lysates/proteins at 30 µg/Lane. Exposure time: 3 minutes; ECL: K1801
Blocking: 5% NFDM/TBST, 1 hour at room temperature Primary antibody: HA600004, 1/5,000 in primary antibody dilution buffer (K1803), overnight at 4 ℃ Secondary antibody: Goat anti-Rabbit IgG-HRP (HA1006), 1/50,000 in 5% NFDM/TBST, 1 hour at room temperature
Predicted band size: 130 kDa Observed band size: 150 kDa
Immunohistochemical analysis of paraffin-embedded human kidney tissue with Mouse anti-Hamartin antibody (HA600004) at 1/600 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 9.0) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (HA600004) at 1/600 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Immunohistochemical analysis of paraffin-embedded human fetal skeletal muscle tissue with Mouse anti-Hamartin antibody (HA600004) at 1/200 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 9.0) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (HA600004) at 1/200 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
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