InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: TSC1

Summary

InnateDB Gene

IDBG-90470.6

Last Modified

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

Gene Symbol

TSC1

Gene Name

tuberous sclerosis 1

Synonyms

LAM; TSC

Species

Homo sapiens

Ensembl Gene

ENSG00000165699

Encoded Proteins

IDBP-90472

tuberous sclerosis 1

IDBP-294284

tuberous sclerosis 1

IDBP-383105

tuberous sclerosis 1

IDBP-600329

tuberous sclerosis 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 22412198

TSC1 inhibits TLR response and endotoxin tolerance through repression of mTORC1 and JNK1/2 signalling pathways. (Demonstrated in mice)

InnateDB Annotation from Orthologs

Summary

PMID 22412198

[Mus musculus] Tsc1 inhibits TLR response and endotoxin tolerance through repression of mTORC1 and JNK1/2 signalling pathways.

PMID 23776173

[Mus musculus] TSC1 is a critical regulator of dendritic cell function in both innate and adaptive immunity.

PMID 24282297

[Mus musculus] The interplay between Tsc1-Rheb-mTOR complex 1 signalling and Myc-dependent metabolism are dynamically regulated during dentritic cell (DC) development, whereas uncontrolled mTORC1 activation impairs DC development.

Entrez Gene

Summary

This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:132891348-132944633

Strand

Reverse strand

Band

q34.13

Transcripts

ENST00000298552	ENSP00000298552
ENST00000403810	ENSP00000386093
ENST00000440111	ENSP00000394524
ENST00000493467
ENST00000461879
ENST00000475903
ENST00000490179
ENST00000545250	ENSP00000444017

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