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Insulin Pathway: TSC 1,2
 | | |  TSC 1,2 Antibodies
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| Anti-TSC1 (Tuberous Sclerosis 1) Rabbit pAb |
IB, IP |
human, mouse |
AP1032 |
| Anti-TSC2 Rabbit pAb |
IB |
human, mouse |
ST1136 |
| PhosphoDetect™ Anti-Tuberin/TSC2 (pThr1462) Rabbit pAb |
IB |
human, mouse |
ST1084 |
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| | | | Additional Information | | | | | | | | |
| Protein : TSC1
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| Name | TSC1 |
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| Description | tuberous sclerosis 1 |
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| Owner | Public |
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| URN | urn:agi-llid:7248 |
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| Connectivity | 42 |
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| Notes | A total of 12 mutations were detected in 24 Indian TSC families in TSC genes. Cortical tuber giant cells in a case of epileptogenic tuberous sclerosis showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosphorylation of S6. Down regulation or loss of tuberin and/or hamartin expression may be permissive to fibrocyte proliferation or promote collagen production leading to fibroepithelial polyp formation. Five of 6 subependymal giant cell astrocytomas(SEGAs) also showed evidence of biallelic mutation of TSC1 or TSC2, suggesting that SEGAs develop due to complete loss of a functional tuberin-hamartin complex. Haploinsufficiency for TSC1 can contribute to the development of bladder cancer and, if this is so, the LOH of TSC1 observed in >50% of transitional cell carcinomas is biologically significant. Human TSC1 triggera mammalian cell size reduction. Mutated in tuberous sclerosis. Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. TSC1 and TSC2 mutations in tuberous sclerosis - used DHPLC analysis to facilitate the detection of a mosaic mutation, in the presence of a coexisting constitutional polymorphism. TSC1 gene, which is responsible for tuberous sclerosis was identified, and all the exons of TSC1 were analyzed by using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) from peripheral blood of 28 patients. TSC1 is a GAP for rheb and insulin-mediated rheb activation is PI3K dependent. TSC1 mutation possibly has a causative role in the initiation or progression of some bladder tumors and this process is possibly related to the functional loss of p27. The 352 insA mutation in TSC1 gene is a new causative mutation and the 347A-->C is a rare single nucleotide polymorphism. We conclude that the hamartin/tuberin complex exerted a direct effect on the morphology and adhesive properties of 293 cells through regulation of the level and/or activity of cellular E-cadherin/beta-catenin. Western blot analyses confirmed the deregulation of 14-3-3 proteins upon ectopic overexpression of TSC1 and TSC2. Data support a model in which phosphorylation of hamartin regulates the function of the hamartin-tuberin complex during the G2/M phase of the cell cycle. Hamartin and tuberin function together to inhibit mammalian target of rapamycin (mTOR)-mediated signaling to eukaryotic initiation factor 4E-binding protein 1 (4E-BP1) and ribosomal protein S6 kinase 1 (S6K1). Monitored 14 previously uncharacterized and six known phosphorylation events after phorbol ester stimulation in the ERK/p90 ribosomal S6 kinase-signaling targets, TSC1 and TSC2, and a protein kinase C-dependent pathway to TSC2 phosphorylation. Mutated in bladder cancer (REVIEW). Mutated in suberous sclerosis (REVIEW). Negative regulators of cell division; control of transition from G0/G1 to S phase. People with TSC2 mutations were significantly more likely than those with TSC1 mutations to have autistic disorder, a low IQ, and a history of infantile spasms. Regulation by phosphatidylinositol 3-kinase/Akt pathway and phosphorylation of tuberin. The TSC1.TSC2 complex is regulated by pam and its ortholog highwire. Tsc1 gene expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex. |
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| Hugo ID | 12362 |
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| Microarray ID | 1369362_at |
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| | A_43_P12135 |
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| | A_43_P16036 |
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| | 1422043_at |
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| | A_51_P155018 |
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| | A_52_P267779 |
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| | AF013168 |
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| | 32599_at |
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| | 209390_at |
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| | 233570_at |
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| | D87683_at |
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| | A_32_P323124 |
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| | A_23_P94600 |
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| | A_14_P137671 |
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| | A_14_P120983 |
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| | A_14_P136352 |
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| | A_14_P125167 |
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| | A_24_P329635 |
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| | OR1640A |
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| | OH3510 |
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| Chromosome position | 2 B-C1.1 |
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| | 3p12 |
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| | 9q34 |
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| GO ID | 0005515 |
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| | 0030426 |
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| | 0007155 |
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| | 0007266 |
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| | 0045786 |
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| | 0050875 |
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| Alias | Hamartin |
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| | KIAA0243 |
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| | TSC1 |
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| | tuberous sclerosis 1 |
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| | tuberous sclerosis I |
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| | tuberous sclerosis 1 (hamartin) |
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| | TSC I |
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| | TSC1 gene (hamartin) |
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| | mgc86987 |
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| | mkiaa0243 |
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| Organism | Rattus norvegicus |
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| | Mus musculus |
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| | Homo sapiens |
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| FunctionalClass | protein binding |
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| GO Cellular Component | growth cone |
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| Cell Localization | Cytoplasm |
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| Pathway | IGF1-BST1 |
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| | IGF1-IGF2R |
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| | IGF1-LRP5 |
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| | INS-HLA-DRB1 |
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| | INS-TFRC |
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| | CB0480 Insulin |
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| | mTOR |
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| | simple mTOR |
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| GO Biological Process | negative regulation of cell cycle |
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| | cellular physiological process |
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| | Rho protein signal transduction |
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| | cell adhesion |
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| | negative regulation of progression through cell cycle |
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| State | protein isoform 1 |
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| | protein isoform 2 |
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| State Description | Transcript Variant: This variant (1) encodes the longer isoform (1). |
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| | Transcript Variant: This variant (2) lacks multiple 3' exons, but has an alternate 3' segment, as compared to variant 1. The encoded isoform 2 has a much shorter and distinct C-terminus, as compared to isoform 1. |
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