Protein Domain : IPR003913

Type:  Family Name:  Tuberin
Description:  Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppressor genes. The disease ischaracterised by hamartomas in one or more organs (including brain, skin, heart and kidney) giving rise to a broad phenotypic spectrum (including seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC2 encodes tuberin, a putative GTPase activatingprotein for rap1 and rab5. The TSC1 gene was recently identified and codes for hamartin, a novel protein with no significant similarity to tuberin orany other known vertebrate protein []. Hamartin and tuberin have been shown to associate physically in vivo, their interaction being mediated by predicted coiled-coil domains. It is thought that hamartin and tuberin function in the same complex, rather than in separate pathways.Moreover, because oligomerisation of the hamartin C-terminal coiled coil domain is inhibited by the presence of tuberin, it is possible that tuberinacts as a chaperone, preventing hamartin self-aggregation [].Tuberin is a widely expressed 1784-amino-acid protein. Expression of the wild-type gene in TSC2 mutant tumour cells inhibits proliferation andtumorigenicity. This "suppressor" activity is encoded by a functional domain in the C terminus that shares similarity with the GTPase activatingprotein Rap1GAP []. It is thought that tuberin functions as a Rab5GAP in vivo to negatively regulate Rab5-GTP activity in endocytosis []. It also acts as a GTPase-activating protein (GAP) for the small GTPase RheB, a direct activator of the protein kinase activity of mTORC1 [, ]. Short Name:  Tuberin
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0 Child Features

3 Contains

DB identifier Type Name
IPR016024 Domain Armadillo-type fold
IPR018515 Domain Tuberin-type domain
IPR000331 Domain Rap GTPase activating protein domain

2 Cross Referencess

Identifier
PTHR10063:SF1
PR01431

0 Found In

4 GO Annotations

GO Term Gene Name
GO:0005096 IPR003913
GO:0032007 IPR003913
GO:0043547 IPR003913
GO:0033596 IPR003913

4 Ontology Annotations

GO Term Gene Name
GO:0005096 IPR003913
GO:0032007 IPR003913
GO:0043547 IPR003913
GO:0033596 IPR003913

0 Parent Features

0 Proteins

5 Publications

First Author Title Year Journal Volume Pages PubMed ID
            9045618
            9580671
            7558029
            15340059
            12271141