Property Summary

NCBI Gene PubMed Count 169
Grant Count 521
R01 Count 298
Funding $41,977,954.41
PubMed Score 165.29
PubTator Score 696.56

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma -1.100 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.600 0.000
medulloblastoma, large-cell -2.000 0.000
adult high grade glioma -1.400 0.000
ovarian cancer -2.100 0.000

Synonym

Accession Q92574 B7Z897 Q5VVN5
Symbols LAM
TSC

Gene

PDB

4Z6Y   5EJC  

 GWAS Trait (1)

Gene RIF (132)

PMID Text
27060308 TSC1 and TSC2 mutations are associated with tuberous sclerosis.
26893383 Each TBC1D7 molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 may stabilize the TSC complex by tethering the C-terminal ends of two TSC1 coiled-coils.
26873267 Tsc1 transgenic mice exhibit an age-dependent seizure pattern sequence mimicking early human tuberous sclerosis complex epilepsy.
26728384 Data show that 10 pathogenic mutations were quickly identified, 7 were located in tuberous sclerosis 1 protein (TSC1) and 3 were observed in tuberous sclerosis 2 protein (TSC2).
26540169 TSC-related tumors can increase the mutation detection rate, indicate that it is not likely that a third TSC gene exists, and enable provision of genetic counseling to the substantial population of TSC individuals who are currently NMI
26412398 PAK2 is a direct effector of TSC1-TSC2-RHEB signaling and a new target for rational drug therapy in TSC.
26408672 IQ/DQ correlates inversely with predicted levels and/or deleterious biochemical effects of mutant TSC1 or TSC2 protein in tuberous sclerosis complex.
26393489 Tuberous sclerosis is a syndrome caused by dominant mutations in Hamartin (TSC1),causing Autism spectrum disorder - like behaviors, seizures, intellectual disability and characteristic brain and skin lesions.
26318033 AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2
26296742 These findings indicate that Tsc1 prevents aberrant renal growth and tumorigenesis by inhibiting mTORC1 signaling, whereas phosphorylated rpS6 suppresses cystogenesis and fibrosis in Tsc1-deleted kidneys
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AA Sequence

MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDK      1 - 70
HLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITML     71 - 140
PMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMK    141 - 210
ENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQ    211 - 280
ISARFPHRSADVTTSPYADTQNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPS    281 - 350
MVCGMTTPPTSPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPR    351 - 420
KEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEAAISRELSEIT    421 - 490
TAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASSSQGASVNPEPLHSSLDKLGPDTPKQAFTPIDLPCG    491 - 560
SADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQPPPYDHLFEVALPKTAHHFVIRKTEELLKK    561 - 630
AKGNTEEDGVPSTSPMEVLDRLIQQGADAHSKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQLLLLHN    631 - 700
QLLYERFKRQQHALRNRRLLRKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDT    701 - 770
MVTKLHSQIRQLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSES    771 - 840
VQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQRLDTSQKRIL    841 - 910
ELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFELEILDLYGRLEKDGLLKKLEE    911 - 980
EKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKTPRPSSARGSSGSRGGGGSSSSSSELSTPEK    981 - 1050
PPHQRAGPFSSRWETTMGEASASIPTTVGSLPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTE   1051 - 1120
LGKDLGVEAKIPLNLDGPHPSPPTPDSVGQLHIMDYNETHHEHS                             1121 - 1164
//

Text Mined References (182)

PMID Year Title
27060308 2016 [Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing].
26893383 2016 Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).
26873267 2016 Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.
26728384 2016 [Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
26540169 2015 Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
26412398 2015 PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex.
26408672 2015 Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.
26393489 2015 Shared functional defect in IP?R-mediated calcium signaling in diverse monogenic autism syndromes.
26318033 2015 AKT3 promotes prostate cancer proliferation cells through regulation of Akt, B-Raf, and TSC1/TSC2.
26296742 2016 Blocking rpS6 Phosphorylation Exacerbates Tsc1 Deletion-Induced Kidney Growth.
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