Recombinant Human Hamartin (TSC1) Protein (His)

Name: Recombinant Human Hamartin (TSC1) Protein (His)
Brand: Beta LifeScience
SKU: BLC-07414P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Hamartin (TSC1) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	Q92574
Target Symbol	TSC1
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His
Target Protein Sequence	TLRDQLLLLHNQLLYERFKRQQHALRNRRLLRKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDTMVTKLHSQIRQLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSESVQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQRLDTSQKRILELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFELEILDLYGRLEKDGLLKKLEEEKAEAAEAAEERL
Expression Range	690-993aa
Protein Length	Partial
Mol. Weight	42.3 kDa
Research Area	Cancer
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1. Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins. Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1.
Subcellular Location	Cytoplasm. Membrane; Peripheral membrane protein.
Database References	HGNC: 12362 OMIM: 191100 KEGG: hsa:7248 STRING: 9606.ENSP00000298552 UniGene: Hs.370854
Associated Diseases	Tuberous sclerosis 1 (TSC1); Lymphangioleiomyomatosis (LAM); Focal cortical dysplasia 2 (FCORD2)
Tissue Specificity	Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

Gene Functions References

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation PMID: 29897930
Knockout of either TSC1 or DEPDC5 led to enhanced HIV-1 reactivation in both a T-cell and a monocyte cell lines. PMID: 30087333
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
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
All of examined patients had TSC 1 gene exon 15 c.1846delG p.A616Pfs*13 mutation. PMID: 29803333
TSC1 and mitochondrial DNA mutations were also confirmed in her son PMID: 29960980
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
a novel TSC1 frameshift mutation was associated with an isolated focal cortical dysplasia type IIb in the absence of further CNS abnormalities PMID: 28762286
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
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
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
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
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
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
Mutations in MTOR, TSC1, or TSC2 were more common in patients who experienced clinical benefit from rapalogs than in those who progressed. PMID: 26831717
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
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
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
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
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
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
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
TSC1 mutations leading to tuberous sclerosis in Chinese children. PMID: 27859028
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
brain somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia PMID: 28215400
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
Repression of TSC1/TSC2 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation. PMID: 28041914
TSC1 mutation is associated in patients, diagnosed with tuberous sclerosis associated vascular malformation. PMID: 27470532
Novel TSC1 mutations in Chinese patients with tuberous sclerosis. PMID: 28178598
Gene expression level of TSC1 is significantly higher in AD patients when compared to normal controls. PMID: 26943237
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
IQ/DQ correlates inversely with predicted levels and/or deleterious biochemical effects of mutant TSC1 or TSC2 protein in tuberous sclerosis complex. PMID: 26408672
AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2 PMID: 26318033
Tsc1 transgenic mice exhibit an age-dependent seizure pattern sequence mimicking early human tuberous sclerosis complex epilepsy. PMID: 26873267
PAK2 is a direct effector of TSC1-TSC2-RHEB signaling and a new target for rational drug therapy in TSC. PMID: 26412398
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
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
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
TSC1 and TSC2 mutations are associated with tuberous sclerosis. PMID: 27060308
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
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
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
Letter/Case Report: response of metastatic renal call carcinoma with TCS1 mutation to mTOR inhibitors. PMID: 25796537
Mutations of the TSC1 gene is associated with tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma. PMID: 25889454
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
These findings support a critical role for the Tsc1 gene as gatekeeper in the protection against uncontrolled cardiac growth. PMID: 25434723
previously unidentified TSC1 and TSC2 mutations in tuberous sclerosis complex PMID: 25927202
our findings indicate that miR-451 regulates cardiac hypertrophy and cardiac autophagy by targeting TSC1 PMID: 25209900
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
Findings indicate that neuronal Tsc1/2 complex activity is required for the coordinated regulation of autophagy by AMPK. PMID: 24599401

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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