RGD Reference Report - Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin. - Rat Genome Database

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Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin.

Authors: Yamamoto, Y  Jones, KA  Mak, BC  Muehlenbachs, A  Yeung, RS 
Citation: Yamamoto Y, etal., Arch Biochem Biophys. 2002 Aug 15;404(2):210-7.
RGD ID: 1601407
Pubmed: PMID:12147258   (View Abstract at PubMed)

Mutations of the TSC1 and TSC2 genes give rise to the clinical disorder of tuberous sclerosis characterized by the development of hamartomas predominantly affecting the central nervous system, kidney, skin, lung, and heart. The function of the gene products, hamartin and tuberin, is not well understood but we have previously suggested a role in vesicular transport. To define the subcellular compartment(s) involved with these two proteins, biochemical characterization of hamartin and tuberin was performed in primary tissues and cell lines. Fractionation of cell lysates identified both proteins in the cytosolic, microsomal, and cytoskeletal compartments. In each of these fractions, hamartin and tuberin formed a stable complex in coimmunoprecipitation analyses. Further, they colocalized extensively in discrete, vesicular structures in the cytoplasm. Within the microsomal compartment, hamartin and tuberin behaved as peripheral membrane proteins that associate with the cytosolic leaflet of membranous domains. Immunoisolation of tuberin-bound vesicles using magnetic beads showed an enrichment of rap1, rab5, and caveolin-1, all of which have been found in specialized lipid microdomains, caveolae. Our data suggest that hamartin and tuberin are multicompartmental proteins that partially reside in caveolin-1-enriched structures and potentially affect their signaling.

Objects referenced in this article
Gene Tsc1 TSC complex subunit 1 Rattus norvegicus
Gene Tsc2 TSC complex subunit 2 Rattus norvegicus

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