Logo
full name
tuberous sclerosis 1

synonyms
LAM, TSC, TSC1, ENSG00000165699

HGNC
HGNC:12362

Entrez Gene
Gene:7248

ENSEMBL
ENSG00000165699

location
chr: 9
start: 135766735
stop: 135820094
strand: -

OMIM
OMIM:605284: TSC1 (Sporadic)
OMIM:607341: Focal cortical dysplasia, type II, somatic
OMIM:606690: Lymphangioleiomyomatosis
OMIM:191100: Tuberous sclerosis-1

transcripts
NM_001162427.1
NM_001162426.1
NM_000368.4

pathways
AMPK signaling pathway [NCBI:989139] [KEGG:hsa04152] [PUBMED:22885100] [PUBMED:18725075] [PUBMED:22700795] [PUBMED:19724019] [PUBMED:19584320] [PUBMED:16644802] [PUBMED:20010958] [PUBMED:16479585] [PUBMED:19197243] [PUBMED:23565491] [PUBMED:20357764] [PUBMED:16723978] [PUBMED:16054041] [PUBMED:19393004] [PUBMED:23899560] [PUBMED:17307971] [PUBMED:15509864] [PUBMED:23024365] [PUBMED:23747347] [PUBMED:19629071]
Autophagy - animal [NCBI:83058] [KEGG:hsa04140] [PUBMED:16200202] [PUBMED:15325588] [PUBMED:24343578] [PUBMED:15978794] [PUBMED:19802558] [PUBMED:16099218] [PUBMED:11099404] [PUBMED:19653858] [PUBMED:15325584] [PUBMED:20034776] [PUBMED:15928708] [PUBMED:21801009] [PUBMED:25948417] [PUBMED:16125113] [PUBMED:21187343]
Cellular responses to stress [NCBI:1270414] [REACTOME:R-HSA-2262752] [PUBMED:15709958]
Choline metabolism in cancer [NCBI:1059539] [KEGG:hsa05231] [PUBMED:23076158] [PUBMED:19264150] [PUBMED:16230400] [PUBMED:23350810] [PUBMED:22429397] [PUBMED:16432178] [PUBMED:19136975] [PUBMED:22089420] [PUBMED:14517341] [PUBMED:22921309] [PUBMED:19855431] [PUBMED:20528734] [PUBMED:19935796] [PUBMED:14523987] [PUBMED:21793073]
Energy dependent regulation of mTOR by LKB1-AMPK [NCBI:1269439] [REACTOME:R-HSA-380972] [PUBMED:17613433] [PUBMED:17712357] [PUBMED:17010524]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
IGF1R signaling cascade [NCBI:1269618] [REACTOME:R-HSA-2428924] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959]
IRS-mediated signalling [NCBI:1269431] [REACTOME:R-HSA-112399]
IRS-related events triggered by IGF1R [NCBI:1269620] [REACTOME:R-HSA-2428928] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:18927274] [PUBMED:21042815] [PUBMED:20098959]
Inhibition of TSC complex formation by PKB [NCBI:1269437] [REACTOME:R-HSA-165181]
Insulin receptor signalling cascade [NCBI:1269429] [REACTOME:R-HSA-74751] [PUBMED:9677303] [PUBMED:11282018]
Insulin signaling pathway [NCBI:83090] [KEGG:hsa04910] [PUBMED:11742412] [PUBMED:11343120] [PUBMED:15733744] [PUBMED:11282018] [PUBMED:10196204] [PUBMED:18291668] [PUBMED:9609110] [PUBMED:10567225] [PUBMED:12791379] [PUBMED:9748166] [PUBMED:15624019] [PUBMED:9445476] [PUBMED:9346240] [PUBMED:14635525] [PUBMED:16288289] [PUBMED:12867054] [PUBMED:15229476] [PUBMED:17344645] [PUBMED:9609111]
LKB1 signaling events [NCBI:137957] [Pathway Interaction Database:lkb1_pathway] [PUBMED:12429843] [PUBMED:18339622] [PUBMED:16912160] [PUBMED:15454081] [PUBMED:19513107] [PUBMED:16959574] [PUBMED:11741830] [PUBMED:7706316] [PUBMED:18063805] [PUBMED:14614828] [PUBMED:16306228] [PUBMED:12489981] [PUBMED:19386264] [PUBMED:18439900] [PUBMED:12805220] [PUBMED:17959818] [PUBMED:16396636] [PUBMED:10542369] [PUBMED:16308421] [PUBMED:15016379] [PUBMED:19622832] [PUBMED:14511394] [PUBMED:14676191] [PUBMED:17482548] [PUBMED:17991864] [PUBMED:11445556] [PUBMED:14651849] [PUBMED:14517248] [PUBMED:14985505] [PUBMED:15261145] [PUBMED:16817901] [PUBMED:9108484] [PUBMED:17573348] [PUBMED:12973359] [PUBMED:19369417] [PUBMED:15705853] [PUBMED:10642527] [PUBMED:16627617] [PUBMED:17482549] [PUBMED:8631898] [PUBMED:14976552]
Longevity regulating pathway [NCBI:1319989] [KEGG:hsa04211] [PUBMED:21779512] [PUBMED:23594965] [PUBMED:25654554] [PUBMED:25832544] [PUBMED:24997879] [PUBMED:22618766] [PUBMED:20336132] [PUBMED:24905167] [PUBMED:25601466] [PUBMED:20103737] [PUBMED:18692468] [PUBMED:20395504] [PUBMED:25824609] [PUBMED:17701476] [PUBMED:23939249] [PUBMED:20848587] [PUBMED:22983298] [PUBMED:19262508] [PUBMED:20357764] [PUBMED:18946478] [PUBMED:23061800]
Macroautophagy [NCBI:1270432] [REACTOME:R-HSA-1632852] [PUBMED:24296784]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
PI3K Cascade [NCBI:1269432] [REACTOME:R-HSA-109704]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
PKB-mediated events [NCBI:1269434] [REACTOME:R-HSA-109703]
Phospholipase D signaling pathway [NCBI:1311074] [KEGG:hsa04072] [PUBMED:9310372] [PUBMED:9119890] [PUBMED:15310762] [PUBMED:18936782] [PUBMED:24990952] [PUBMED:14769825] [PUBMED:21936578] [PUBMED:10666319] [PUBMED:17210675] [PUBMED:19264150] [PUBMED:23076158] [PUBMED:17054901] [PUBMED:16622417] [PUBMED:10807766] [PUBMED:12217395] [PUBMED:11042115] [PUBMED:19815110] [PUBMED:24995811] [PUBMED:16143829] [PUBMED:8135758] [PUBMED:11991733] [PUBMED:19410013] [PUBMED:17245604]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Insulin receptor [NCBI:1269428] [REACTOME:R-HSA-74752] [PUBMED:8276779]
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) [NCBI:1269617] [REACTOME:R-HSA-2404192] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22044904] [PUBMED:22649417]
TBC/RABGAPs [NCBI:1470925] [REACTOME:R-HSA-8854214] [PUBMED:16855591] [PUBMED:22251903]
TP53 Regulates Metabolic Genes [NCBI:1269655] [REACTOME:R-HSA-5628897] [PUBMED:19822145] [PUBMED:12453409] [PUBMED:18344994] [PUBMED:11545734] [PUBMED:16839880] [PUBMED:20399660] [PUBMED:15105503] [PUBMED:13298683] [PUBMED:15665293] [PUBMED:18198340] [PUBMED:18692468] [PUBMED:12203114] [PUBMED:17409411] [PUBMED:11959846] [PUBMED:16728594] [PUBMED:17486094] [PUBMED:23484829] [PUBMED:22682249] [PUBMED:19696408] [PUBMED:9926927] [PUBMED:22864287] [PUBMED:20378837] [PUBMED:18391940] [PUBMED:24366874] [PUBMED:19439913] [PUBMED:15059920] [PUBMED:10716435] [PUBMED:17540029]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]
mTOR signaling pathway [NCBI:83059] [KEGG:hsa04150] [NCBI:138001] [Pathway Interaction Database:mtor_4pathway] [PUBMED:17277771] [PUBMED:15341740] [PUBMED:12172553] [PUBMED:15718470] [PUBMED:14651849] [PUBMED:15268862] [PUBMED:15306821] [PUBMED:26046644] [PUBMED:12869586] [PUBMED:24556838] [PUBMED:17928295] [PUBMED:9427642] [PUBMED:18046414] [PUBMED:12912918] [PUBMED:16286006] [PUBMED:26658722] [PUBMED:24842496] [PUBMED:23465396] [PUBMED:17709744] [PUBMED:17599906] [PUBMED:16919458] [PUBMED:10364159] [PUBMED:15342917] [PUBMED:11500364] [PUBMED:19812304] [PUBMED:12482958] [PUBMED:11729323] [PUBMED:16962653] [PUBMED:18952604] [PUBMED:9465032] [PUBMED:1496022] [PUBMED:10567431] [PUBMED:19114562] [PUBMED:17510057] [PUBMED:18604198] [PUBMED:15545625] [PUBMED:11914378] [PUBMED:17461779] [PUBMED:9445476] [PUBMED:18497260] [PUBMED:12604610] [PUBMED:15071500] [PUBMED:18925875] [PUBMED:12906785] [PUBMED:11287630] [PUBMED:15004009] [PUBMED:16756488] [PUBMED:17043309] [PUBMED:18198340] [PUBMED:12820960] [PUBMED:12747827] [PUBMED:17053147] [PUBMED:15851026] [PUBMED:15467718] [PUBMED:18762023] [PUBMED:25242279] [PUBMED:24698685] [PUBMED:11175345] [PUBMED:27304501] [PUBMED:18411301] [PUBMED:11500365] [PUBMED:17693255] [PUBMED:23694989] [PUBMED:12231510] [PUBMED:19446321] [PUBMED:11418588] [PUBMED:19258318] [PUBMED:18439900] [PUBMED:19225151] [PUBMED:26185979] [PUBMED:10357815] [PUBMED:26269525] [PUBMED:23421405] [PUBMED:9271440] [PUBMED:16915281] [PUBMED:17141160] [PUBMED:15249583] [PUBMED:12912989] [PUBMED:27027448] [PUBMED:18423201] [PUBMED:19211835] [PUBMED:9204908] [PUBMED:26700098] [PUBMED:18566587] [PUBMED:17386266]
mTOR signalling [NCBI:1269436] [REACTOME:R-HSA-165159] [PUBMED:21157483]