Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
Open accessAbstract
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppressor gene. The disease is characterized by a broad phenotypic spectrum that can include seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC2 encodes tuberin, a putative GTPase activating protein for rap1 and rab5. The TSC1 gene was recently identified and codes for hamartin, a novel protein with no significant homology to tuberin or any other known vertebrate protein. Here, we show that hamartin and tuberin associate physically in vivo and that the interaction is mediated by predicted coiled-coil domains. Our data suggest that hamartin and tuberin function in the same complex rather than in separate pathways.
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TSC2 contains a domain with homology to Rap1-GAP and forms a complex in vivo with TSC1, mediated by predicted coiled-coil domains at the TSC1 C terminus and the TSC2 N terminus.
“TSC2 contains a domain with homology to Rap 1-GAP (van Slegtenhorst et al., 1997), and forms a complex in vivo with TSC1, mediated by predicted coiled-coil domains at the TSC1 C terminus and the TSC2 N terminus (van Slegtenhorst et al., 1998; Nellist et al., 1999) (Fig. 5A).”
From Signal integration in the (m)TORC1 growth pathway (2018) · cites this paper as van Slegtenhorst et al., 1998
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- Authors
- van Slegtenhorst, M.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1998-06-01
- Volume
- 7
- Issue
- 6
- Pages
- 1053-1057
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2152973392
- Cited by
- 565
- References
- 16
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 8 · 2023: 7 · 2022: 11 · 2021: 12 · 2020: 23 · 2019: 19 · 2018: 16 · 2017: 13 · 2016: 23 · 2015: 15 · 2014: 10 · 2013: 19 · 2012: 16
- FWCI
- 15.74
- Type
- journal article
- Language
- en
- Open access
- green
- pure.eur.nl
- Licence
- other-oa
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- HighWire Press Open Archive (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- hamartin, tuberin, TSC1, TSC2, tuberous sclerosis complex, protein-protein interaction, coiled-coil domain, GTPase-activating protein, Rap1, Rab5, tumor suppressor, protein complexes
- MeSH terms
- Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Animals, Binding Sites, Genetic Techniques, Humans, Precipitin Tests, Protein Binding, Protein Conformation, Proteins, Repressor Proteins, Saccharomyces cerevisiae, Transfection, Tuberous Sclerosis, COS Cells, Tumor Suppressor Proteins
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