Recombinant Human Hamartin (TSC1), partial

1. Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation PMID: 29897930
2. Knockout of either TSC1 or DEPDC5 led to enhanced HIV-1 reactivation in both a T-cell and a monocyte cell lines. PMID: 30087333
3. Findings indicate six novel mutations: four in the tuberous sclerosis 2 protein (TSC2) gene, of which one is nonsense, two frame shift and one large deletion of 16 exons; and two in the tuberous sclerosis 1 protein (TSC1) gene, one nonsense and other frame shift. PMID: 29932062
4. Tuberous sclerosis complex Chinese Han patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. PMID: 29740858
5. All of examined patients had TSC 1 gene exon 15 c.1846delG p.A616Pfs*13 mutation. PMID: 29803333
6. TSC1 and mitochondrial DNA mutations were also confirmed in her son PMID: 29960980
7. our study demonstrated high rate of TSC1/2 mutations among clinically diagnosed Russian TS patients. A significant share of these mutations was represented by large gene rearrangements. PMID: 29476190
8. a novel TSC1 frameshift mutation was associated with an isolated focal cortical dysplasia type IIb in the absence of further CNS abnormalities PMID: 28762286
9. Authors next identified miR-130a to be a negative regulator of TSC1 by targeting its 3'UTR. miR-130a was overexpressed in HGSOC and could drive proliferation and invasion/metastasis of ovarian cancer cells. PMID: 28800130
10. All tuberous sclerosis patients were found to have mutations, which included 1 case with tuberous sclerosis 1 protein (TSC1) mutation and 9 cases with tuberous sclerosis 2 protein (TSC2) mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case). PMID: 29419853
11. Mutations in TSC1 gene on chromosome 9q34 that encode hamartin are associated with fetal Cardiac Rhabdomyoma that can be the initial finding in patients with Tuberous Sclerosis Complex. 5 known "pathogenic" TSC1-causing gene mutations were confirmed, also detected 6 "likely pathogenic" mutations. PMID: 29642139
12. Patients with large deletions and frameshift mutations of the TSC1 or TSC2 gene showed larger AML diameters than patients with other kinds of mutations. PMID: 28065512
13. Findings suggest that TSC1 mutations are frequent in mucosal melanoma. TSC1 mutations can activate the mTOR pathway through phospho-S6RP and might be a poor prognostic predictor of mucosal melanoma. PMID: 29185092
14. We report the first case of a collision tumor composed of adenocarcinoma and melanoma with a TSC1 mutation that objectively and durably responded to mTOR inhibition. PMID: 28302097
15. Mutations in MTOR, TSC1, or TSC2 were more common in patients who experienced clinical benefit from rapalogs than in those who progressed. PMID: 26831717
16. The findings establish an active role for Tsc1 as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients-including Tsc2-thereby preventing their ubiquitination and proteasomal degradation. PMID: 29127155
17. we found TSC1 gene to be involved in bilateral KC and TSC as well as with nonsyndromic KC, supporting the hypothesis that diverse germline mutations of the same gene can cause genetic disorders with overlapping clinical features. PMID: 29261847
18. In our series, consistent with other studies, TSC2 mutations were associated with a more severe phenotypic spectrum than TSC1 mutations. This is the first study that sought to characterize the molecular spectrum of Brazilian individuals with tuberous sclerosis PMID: 28968464
19. We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon PMID: 27112935
20. our findings suggest the significance of previously undocumented mutation-dependent mTOR hyperactivation and frequent TSC1/2 mutations in HBV-associated HCCs. They define a molecular subset of HCC having genetic aberrations in mTOR signalling, with potential significance of effective specific drug therapy. PMID: 27974549
21. The mTOR-dependent, epithelial phenotype of TSC astrocytes suggests TSC1/2 and mTOR tune the phosphorylation level of catenin delta-1 by controlling PKCe activity, thereby regulating the mesenchymal-epithelial-transition (MET) PMID: 27516388
22. We conditionally ablated the tuberous sclerosis complex 1 (Tsc1) gene, an mTOR inhibitor, in the rods of the Pde6b(H620Q/H620Q) preclinical RP mouse model and observed, functionally and morphologically, an improvement in the survival of rods and cones at early and late disease stages. PMID: 27516389
23. TSC1 mutations leading to tuberous sclerosis in Chinese children. PMID: 27859028
24. Our results indicate that TSC2 and less commonly TSC1 alterations are the primary essential driver event in angiomyolipoma/Lymphangioleiomyomatosis, whereas other somatic mutations are rare and likely do not contribute to tumor development. PMID: 27494029
25. brain somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia PMID: 28215400
26. TSC1 expression is reduced in two subsets of clear-cell renal cell carcinomas, those with monoallelic VHL gene inactivation and those with concurrent low HIF-1alpha and high HIF-2alpha expression. PMID: 27845047
27. Repression of TSC1/TSC2 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation. PMID: 28041914
28. TSC1 mutation is associated in patients, diagnosed with tuberous sclerosis associated vascular malformation. PMID: 27470532
29. Novel TSC1 mutations in Chinese patients with tuberous sclerosis. PMID: 28178598
30. Gene expression level of TSC1 is significantly higher in AD patients when compared to normal controls. PMID: 26943237
31. 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. PMID: 26893383
32. IQ/DQ correlates inversely with predicted levels and/or deleterious biochemical effects of mutant TSC1 or TSC2 protein in tuberous sclerosis complex. PMID: 26408672
33. AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2 PMID: 26318033
34. Tsc1 transgenic mice exhibit an age-dependent seizure pattern sequence mimicking early human tuberous sclerosis complex epilepsy. PMID: 26873267
35. PAK2 is a direct effector of TSC1-TSC2-RHEB signaling and a new target for rational drug therapy in TSC. PMID: 26412398
36. 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 PMID: 26296742
37. 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). PMID: 26728384
38. 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. PMID: 26393489
39. TSC1 and TSC2 mutations are associated with tuberous sclerosis. PMID: 27060308
40. 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 PMID: 26540169
41. Data show that microRNA miR-451 target tuberous sclerosis 1 (TSC1) gene and activates the PI3-kinase/Akt protein/mTOR protein signaling in multiple myeloma (MM) Side population (SP) cells. PMID: 25915427
42. 1st report of TSC1 R509X mutation in a Chinese family and a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. PMID: 25900779
43. Letter/Case Report: response of metastatic renal call carcinoma with TCS1 mutation to mTOR inhibitors. PMID: 25796537
44. Mutations of the TSC1 gene is associated with tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma. PMID: 25889454
45. PLK1 protein levels are increased in hamartin and tuberin deficient cells and Lymphangioleiomyomatosis patient-derived specimens, and that this increase is rapamycin-sensitive. PMID: 25565629
46. These findings support a critical role for the Tsc1 gene as gatekeeper in the protection against uncontrolled cardiac growth. PMID: 25434723
47. previously unidentified TSC1 and TSC2 mutations in tuberous sclerosis complex PMID: 25927202
48. our findings indicate that miR-451 regulates cardiac hypertrophy and cardiac autophagy by targeting TSC1 PMID: 25209900
49. Compared to patients with TSC1 mutations, individuals with TSC2 mutations had a significantly higher frequency of epilepsy and tended to have a higher frequency of infantile spasms. PMID: 25498131
50. Findings indicate that neuronal Tsc1/2 complex activity is required for the coordinated regulation of autophagy by AMPK. PMID: 24599401

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HGNC: 12362

OMIM: 191100

KEGG: hsa:7248

STRING: 9606.ENSP00000298552

UniGene: Hs.370854