TSC2/Tuberin Rabbit Polyclonal Antibody

Function

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mental retardation and the widespread development of distinctive tumors termed hamartomas. Two different genetic loci have been linked to TSC; one of these loci, the tuberous sclerosis-2 gene (TSC2), encodes a protein called tuberin and the other loci, tuberous sclerosis-1 gene (TSC1), encodes a protein called hamartin. Tuberin and hamartin interact with each other forming a cystoplasmic complex. Hamartin interacts with the ezrin-radixin-moesin (ERM) family of actin-binding proteins and inhibition of hamartin activity results in loss of cell adhesion. Hamartin is present in most adult tissues with strong expression in brain, heart, and kidney.

Background References

1. Parkhitko AA et al. Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide. Mol Cancer Res 12:48-57 (2014).

2. Zhang L et al. TSC1/2 signaling complex is essential for peripheral na ve CD8+ T cell survival and homeostasis in mice. PLoS One 7:e30592 (2012).

Tissue Specificity

Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.

Post-translational Modification

Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1. Phosphorylation at Ser-939 and Thr-1462 by PKB/AKT1 is induced by growth factor stimulation. Phosphorylation by AMPK activates it and leads to negatively regulates the mTORC1 complex. Phosphorylated at Ser-1798 by RPS6KA1; phosphorylation inhibits TSC2 ability to suppress mTORC1 signaling. Phosphorylated by DAPK1.; Ubiquitinated by the DCX(FBXW5) E3 ubiquitin-protein ligase complex, leading to its subsequent degradation. Ubiquitinated by MYCBP2 independently of its phosphorylation status leading to subsequent degradation; association with TSC1 protects from ubiquitination.

Subcellular Location

Cytoplasm, Membrane

UNIPROT

SwissProt: P49815 Human

Synonyms