Anti-Hamartin/TSC1 Antibody Picoband® Fluoro488 Conjugated

TSC1 (Tuberous Sclerosis 1), also called HAMARTIN or TSC, is a human protein and gene. As part of a comprehensive strategy to identify the gene mutant in tuberous sclerosis-1, van Slegtenhorst et al. (1997) developed an overlapping contig of clones from the 1.4-Mb TSC1 region on chromosome 9. Benvenuto et al. (2000) showed that overexpression of the TSC1 gene in rat fibroblasts inhibits growth and causes changes in cell morphology. Van Slegtenhorst et al. (1998) showed that hamartin and tuberin associate physically in vivo, however, and that the interaction is mediated by predicted coiled-coil domains.

A synthetic peptide corresponding to a sequence at the C-terminus of human Hamartin, identical to the related rat sequence, and different from the related mouse sequence by one amino acid.

In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. .

1. Benvenuto, G., Li, S., Brown, S. J., Braverman, R., Vass, W. C., Cheadle, J. P., Halley, D. J. J., Sampson, J. R., Wienecke, R., DeClue, J. E. 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 19: 6306-6316, 2000. 2. van Slegtenhorst, M., de Hoogt, R., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., van den Ouweland, A., Halley, D., Young, J., Burley, M., Jeremiah, S., and 29 others. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277: 805-808, 1997. 3. van Slegtenhorst, M., Nellist, M., Nagelkerken, B., Cheadle, J., Snell, R., van den Ouweland, A., Reuser, A., Sampson, J., Halley, D., van der Sluijs, P. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum. Molec. Genet. 7: 1053-1057, 1998.