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ProteinQ898669· pop 12· linked from 86 articles

TSC complex subunit 1

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Also known as tumor suppressor, tuberous sclerosis 1 protein, TSC1, truncated hemartin, hamartin

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

Protein · UniProt

Hamartin

Gene
TSC1
Organism
Homo sapiens (Human)
Length
1,164 aa
Molecular mass
129,767 Da
Evidence
1: Evidence at protein level

Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12906785, PubMed:15340059, PubMed:24529379, PubMed:28215400). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:12906785, PubMed:15340059, Pub…

3D-structureAlternative splicingChaperoneCoiled coilCytoplasmDisease variantEpilepsyIsopeptide bond
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Article

7 sections
Contents
  • Function
  • Clinical significance
  • Interactions
  • See also
  • References
  • Further reading
  • External links

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.

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