Hamartin (TSC1) Antibody – Rabbit Polyclonal

This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]

TSC1: tuberous sclerosis protein 1 (TSC1). May have tumor suppressor activity. Together with tuberin (TSC2), inhibits mammalian target of rapamycin (mTOR)-mediated signaling to eukaryotic initiation factor 4E-binding protein 1 (4E-BP1) and ribosomal protein S6 kinase. Regulated by the phosphatidylinositol 3-kinase/Akt pathway and phosphorylation of tuberin. Phosphorylated by cyclin-dependent kinase 1/cyclin B during the cell cycle.

Protein type: Tumor suppressor; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 9q34

Cellular Component: TSC1-TSC2 complex; growth cone; protein complex; membrane; intracellular membrane-bound organelle; lamellipodium; cytoplasm; plasma membrane; actin filament; cell cortex; cytosol

Molecular Function: protein binding; chaperone binding; protein N-terminus binding; GTPase activating protein binding; GTPase regulator activity

Biological Process: myelination; regulation of cell cycle; protein heterooligomerization; regulation of cell-matrix adhesion; cell-matrix adhesion; negative regulation of insulin receptor signaling pathway; negative regulation of cell size; regulation of phosphoprotein phosphatase activity; cardiac muscle cell differentiation; response to insulin stimulus; regulation of translation; negative regulation of cell proliferation; positive regulation of focal adhesion formation; cell projection organization and biogenesis; synapse organization and biogenesis; cell cycle arrest; kidney development; potassium ion transport; negative regulation of TOR signaling pathway; protein stabilization; hippocampus development; rRNA export from nucleus; negative regulation of translation; glucose import; regulation of stress fiber formation; neural tube closure; insulin receptor signaling pathway; cerebral cortex development; regulation of protein kinase activity

Disease: Lymphangioleiomyomatosis; Focal Cortical Dysplasia Of Taylor; Tuberous Sclerosis 1