InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TSC1

Summary

InnateDB Protein

IDBP-90472.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TSC1

Protein Name

tuberous sclerosis 1

Synonyms

LAM; TSC;

Species

Homo sapiens

Ensembl Protein

ENSP00000298552

InnateDB Gene

IDBG-90470 (TSC1)

Protein Structure

UniProt Annotation

Function

In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. {ECO:0000269PubMed:12271141, ECO:0000269PubMed:15340059}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:9809973}. Membrane {ECO:0000269PubMed:9809973}; Peripheral membrane protein {ECO:0000269PubMed:9809973}. Note=At steady state found in association with membranes.

Disease Associations

Tuberous sclerosis 1 (TSC1) [MIM:191100]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. {ECO:0000269PubMed:10227394, ECO:0000269PubMed:10533069, ECO:0000269PubMed:10570911, ECO:0000269PubMed:10874311, ECO:0000269PubMed:18830229, ECO:0000269PubMed:22161988, ECO:0000269PubMed:9328481}. Note=The disease is caused by mutations affecting the gene represented in this entry.Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]: Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development. {ECO:0000269PubMed:12112044}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 105 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	105 [view]
Protein-Protein	103 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding
GO:0030695	GTPase regulator activity
GO:0032794	GTPase activating protein binding
GO:0047485	protein N-terminus binding
GO:0051087	chaperone binding

Biological Process

GO:0001822	kidney development
GO:0001843	neural tube closure
GO:0001952	regulation of cell-matrix adhesion
GO:0006407	rRNA export from nucleus
GO:0006417	regulation of translation
GO:0006813	potassium ion transport
GO:0007050	cell cycle arrest
GO:0007160	cell-matrix adhesion
GO:0007399	nervous system development
GO:0008285	negative regulation of cell proliferation
GO:0008286	insulin receptor signaling pathway
GO:0017148	negative regulation of translation
GO:0021766	hippocampus development
GO:0021987	cerebral cortex development
GO:0030030	cell projection organization
GO:0032007	negative regulation of TOR signaling
GO:0032862	activation of Rho GTPase activity
GO:0032868	response to insulin
GO:0032956	regulation of actin cytoskeleton organization
GO:0042552	myelination
GO:0043666	regulation of phosphoprotein phosphatase activity
GO:0045087	innate immune response (InnateDB)
GO:0045792	negative regulation of cell size
GO:0045859	regulation of protein kinase activity
GO:0046627	negative regulation of insulin receptor signaling pathway
GO:0050808	synapse organization
GO:0050821	protein stabilization
GO:0051291	protein heterooligomerization
GO:0051492	regulation of stress fiber assembly
GO:0051726	regulation of cell cycle
GO:0051893	regulation of focal adhesion assembly
GO:0051894	positive regulation of focal adhesion assembly
GO:0055007	cardiac muscle cell differentiation

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005884	actin filament
GO:0005938	cell cortex
GO:0016020	membrane
GO:0030027	lamellipodium
GO:0030426	growth cone
GO:0033596	TSC1-TSC2 complex
GO:0043231	intracellular membrane-bounded organelle
GO:0043234	protein complex