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Protein Domain : IPR003913

Name  Tuberin Short Name  Tuberin
Type  Family 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 codesfor 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 coildomain 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 functionaldomain 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 [, ].

Publication Counts Displayer

0 Child Features

3 Contains

DB identifier Name Short Name Type
IPR016024 Armadillo-type fold ARM-type_fold Domain
IPR000331 Rap GTPase activating protein domain Rap_GAP_dom Domain
IPR018515 Tuberin-type domain Tuberin-type_domain Domain

2 Cross References

Identifier
Source . Name

Subject . Primary Identifier
PTHR10063:SF1 PANTHER IPR003913
PR01431 PRINTS IPR003913

3 Data Sets

Name URL
TrEMBL data set http://www.ebi.ac.uk/trembl/
InterPro data set  
InterPro GO Annotation data set  

0 Found In

4 GO Annotation


Subject . Secondary Identifier

Subject . Name

Subject . Symbol

Ontology Term . Identifier

Ontology Term . Name
Tuberin   GO:0005096 GTPase activator activity
Tuberin   GO:0032007 negative regulation of TOR signaling
Tuberin   GO:0043547 positive regulation of GTPase activity
Tuberin   GO:0033596 TSC1-TSC2 complex

4 Ontology Annotations


Subject . Secondary Identifier

Subject . Name

Subject . Symbol

Ontology Term . Identifier

Ontology Term . Name
Tuberin   GO:0005096 GTPase activator activity
Tuberin   GO:0032007 negative regulation of TOR signaling
Tuberin   GO:0043547 positive regulation of GTPase activity
Tuberin   GO:0033596 TSC1-TSC2 complex

0 Parent Features

9 Proteins

DB identifier Primary Accession
Organism . Name
FBpp0074588 Q9VW83 Drosophila melanogaster
FBpp0304936 M9PD17 Drosophila melanogaster
FBpp0274936 Q2M0Y0 Drosophila pseudoobscura
FBpp0160740 B4KV88 Drosophila mojavensis
FBpp0225960 B4LG17 Drosophila virilis
FBpp0264656 B4PFT0 Drosophila yakuba
FBpp0267765 B4IUF2 Drosophila yakuba
FBpp0267766 B4IUE9 Drosophila yakuba
Q9U9B0_DROME Q9U9B0 Drosophila melanogaster