+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Hamartin, the product of the tuberous sclerosis 1 gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles



Hamartin, the product of the tuberous sclerosis 1 gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles



Cancer Research 58(21): 4766-4770



Tuberous sclerosis is an inherited syndrome associated with mutations in two tumor suppressor genes: TSC1 and TSC2. Tuberin, the product of TSC2, appears to be localized to the Golgi apparatus and may have a function in vesicular transport. The function of hamartin, the product of TSC1, is not known. In this report, we demonstrate an interaction between hamartin and tuberin, which is detectable at endogenous protein levels. Hamartin is present in a cell line derived from the Eker rat that lacks functional tuberin, indicating that the stability of hamartin is not dependent on its interaction with tuberin. Hamartin is localized to the membrane/particulate (P100) fraction of cultured cells. The P100 localization is unchanged in the Eker cells. Finally, we show that at endogenous expression levels, hamartin has a punctate pattern of immunofluorescence in the cytoplasm. Taken together, the presence of hamartin in the membrane/particulate fraction and its pattern of cytoplasmic staining suggest that it is localized to cytoplasmic vesicles. If altered vesicular trafficking leads to tumorigenesis in tuberous sclerosis, TSC1 and TSC2 may have a novel mechanism of tumor suppression.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 031646389

Download citation: RISBibTeXText


Related references

Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Research 58(21): 4766-4770, 1998

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(54): 6306-6316, 2000

Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner. Human Molecular Genetics 15(2): 287-297, 2006

Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin. Archives of Biochemistry & Biophysics 404(2): 210-217, 2002

The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners. Mutation Research 658(3): 234-246, 2008

Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues. Acta Neuropathologica 99(3): 223-230, 2000

Multi-compartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin A potential role in caveolae trafficking. Proceedings of the American Association for Cancer Research Annual Meeting 42: 397, 2001

Developmental expression of the tuberous sclerosis proteins tuberin and hamartin. Acta Neuropathologica 101(3): 202-210, 2001

Tuberous sclerosis in a 19-week fetus: immunohistochemical and molecular study of hamartin and tuberin. Pediatric and Developmental Pathology 5(5): 448-464, 2002

Tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus. Fetal and Pediatric Pathology 23(4): 241-249, 2005

Cellular co-localization of hamartin and tuberin and early hamartoma formation in tuberous sclerosis. Laboratory Investigation 82(1): 314A, 2002

Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. Acta Neuropathologica 99(5): 503-510, 2000

Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis. Journal of Biological Chemistry 276(24): 21017-21021, 2001

Loss of expression of tuberin and hamartin in tuberous sclerosis complex-associated but not in sporadic angiofibromas. Journal of Cutaneous Pathology 30(3): 174-177, 2003

Tuberous Sclerosis Complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Current Biology 13(15): 1259-1268, 2003