TSC1

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Mammalian protein found in humans

title: "TSC1" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Mammalian protein found in humans" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/TSC1" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Mammalian protein found in humans ::

Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene.

Function

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.

Clinical significance

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.

Interactions

TSC1 has been shown to interact with:

References

References

  1. "Entrez Gene: TSC1 tuberous sclerosis 1".
  2. (December 2017). "Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients". The EMBO Journal.
  3. (March 2013). "Tsc1 (hamartin) confers neuroprotection against ischemia by inducing autophagy". Nature Medicine.
  4. (September 2004). "Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase". Proceedings of the National Academy of Sciences of the United States of America.
  5. (November 2002). "The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton". The Journal of Biological Chemistry.
  6. (January 2006). "Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner". Human Molecular Genetics.
  7. (December 2001). "Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin". Human Molecular Genetics.
  8. (June 2001). "Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis". The Journal of Biological Chemistry.
  9. (June 1998). "Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products". Human Molecular Genetics.
  10. (October 2002). "Identification and characterization of the interaction between tuberin and 14-3-3zeta". The Journal of Biological Chemistry.
  11. (September 2004). "Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity". Molecular and Cellular Biology.
  12. (February 2003). "The tuberin-hamartin complex negatively regulates beta-catenin signaling activity". The Journal of Biological Chemistry.
  13. (April 2005). "Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis". Cell.
  14. (April 2006). "Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning". The Journal of Cell Biology.
  15. (December 2006). "Interaction of FoxO1 and TSC2 induces insulin resistance through activation of the mammalian target of rapamycin/p70 S6K pathway". The Journal of Biological Chemistry.
  16. (November 2003). "TSC2 mediates cellular energy response to control cell growth and survival". Cell.
  17. (August 2005). "Phosphorylation and binding partner analysis of the TSC1-TSC2 complex". Biochemical and Biophysical Research Communications.
  18. (May 2006). "Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2". American Journal of Respiratory Cell and Molecular Biology.
  19. (December 2003). "Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B". The Journal of Biological Chemistry.
  20. (December 2001). "TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex". Human Molecular Genetics.
  21. (December 2000). "The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination". Oncogene.
  22. (May 2000). "Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney". American Journal of Physiology. Renal Physiology.
  23. (July 2000). "The TSC1 gene product, hamartin, negatively regulates cell proliferation". Human Molecular Genetics.

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