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
tuberous sclerosis 1
tuberous sclerosis 1
tuberous sclerosis 1
tuberous sclerosis 1
Protein Structure
InnateDB Annotation
Summary
TSC1 inhibits TLR response and endotoxin tolerance through repression of mTORC1 and JNK1/2 signalling pathways. (Demonstrated in mice)
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Tsc1 inhibits TLR response and endotoxin tolerance through repression of mTORC1 and JNK1/2 signalling pathways.
[Mus musculus] TSC1 is a critical regulator of dendritic cell function in both innate and adaptive immunity.
[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 106 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 106 [view]
Protein-Protein 104 [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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Energy dependent regulation of mTOR by LKB1-AMPK pathway
PKB-mediated events pathway
mTOR signalling pathway
Inhibition of TSC complex formation by PKB pathway
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) pathway
Signal Transduction pathway
PI3K Cascade pathway
IRS-mediated signalling pathway
Regulation of Rheb GTPase activity by AMPK pathway
Insulin receptor signalling cascade pathway
IRS-related events triggered by IGF1R pathway
IRS-related events pathway
IGF1R signaling cascade pathway
Signaling by Insulin receptor pathway
KEGG
mTOR signaling pathway pathway
Insulin signaling pathway pathway
INOH
Insulin receptor signaling pathway
PID BIOCARTA
Mtor signaling pathway [Biocarta view]
PID NCI
mTOR signaling pathway
LKB1 signaling events
Cross-References
SwissProt Q92574
TrEMBL Q86WV8 X5D9D2
UniProt Splice Variant
Entrez Gene 7248
UniGene Hs.370854 Hs.713977
RefSeq NM_000368 NM_001162426 NM_001162427 XM_005272211 XM_006717271 XM_006717272
HUGO HGNC:12362
OMIM 605284
CCDS CCDS55350 CCDS6956
HPRD 05594
IMGT
EMBL AC002096 AF013168 AF234185 AK303030 AL445645 BC047772 BC070032 CH471090 D87683 KJ534953
GenPept AAC51674 AAF61948 AAH47772 AAH70032 AHW56593 BAA13436 BAH13883 CAH72112 EAW88021
ImmGen TSC1 (murine)
RNA Seq Atlas 7248