Recombinant Human Neurofibromin (NF1) Protein (His&Myc)

Name: Recombinant Human Neurofibromin (NF1) Protein (His&Myc)
Brand: Beta LifeScience
SKU: BLC-01063P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Neurofibromin (NF1) Protein (His&Myc) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	P21359
Target Symbol	NF1
Synonyms	(Neurofibromatosis-related protein NF-1)
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His&C-Myc
Target Protein Sequence	SSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPD
Expression Range	1566-1837aa
Protein Length	Partial
Mol. Weight	38.7 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	Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
Subcellular Location	Nucleus. Nucleus, nucleolus.
Database References	HGNC: 7765 OMIM: 114500 KEGG: hsa:4763 STRING: 9606.ENSP00000351015 UniGene: PMID: 29290338 Our results demonstrated that SMAD4 and NF1 mutations can serve as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese mCRC patients. PMID: 29703253 A recurrent missense variant c.269T>C (p.Leu90Pro) and a novel nonsense variant c.2993dupA (p.Tyr998) in the NF1 gene were identified in two Chinese families with neurofibromatosis type 1. PMID: 30046999 Deletion of NF1 leads to mutant oligodendrocyte precursor cell (OPC) expansion through increased proliferation and decreased differentiation, the deletion of p53 impairs OPC senescence. Signaling analysis showed that, while PI3K and MEK pathways go through stepwise over-activation, mTOR signaling remains at the basal level in pre-transforming mutant OPCs but is abruptly up-regulated in tumor OPCs. PMID: 29392777 In conclusion, using a panel including 17 susceptibility genes, we documented the presence of somatic mutations in over 50% of pheochromocytomas and paragangliomas (PPGL). We confirmed the high frequency of NF1 somatic mutations and identified KIF1B as the second most frequently mutated gene in PPGL tissues. PMID: 28515046 novel mutations in the exon 4 and exon 7 of NF1 gene in these families correlating with genotype-phenotype characters explaining the neurofibromatosis type 1 and peripheral nerve sheath tumours condition in these patients. PMID: 29680440 identified a novel causative NF1 mutation (c.6547_6548insA) in a Chinese family with NF1 PMID: 28230002 the somatic second hit in the NF1 gene sensitizes Schwann cells to sex hormones resulting in a highly increased proliferation. PMID: 29185159 This study retrospectively re-evaluated all NF1 gene variants found in 17 years of diagnostic activity and selected all the mutations not reported in the international databases or in the medical literature. Those latter were stratified according to the five pathogenetic classes, analyzed for their type and their distribution in the exons of the NF1 gene and in the domains of the relative protein. PMID: 28961165 NF1 gene mutation is associated with neurofibromatosis type1. PMID: 27980226 The identification of high frequency of somatic NF1 mutations in sporadic tumours indicates that neurofibromin is likely to play a critical role in development, far beyond that evident in the tumour predisposition syndrome Neurofibromatosis type 1. [Review] PMID: 28637487 findings provide a mechanism by which miR-107 regulates NF1 in GC, as well as highlight the importance of interaction between miR-107 and NF1 in GC development and progression PMID: 27827403 review of neurofibromin with special attention to keratinocytes, melanocytes, NF1-related tumors and melanoma [review] PMID: 27622733 Data indicate that telomere length may play a role in driving genomic instability and clonal progression in neurofibromatosis type 1 neurofibromin 1 (NF1)-associated malignant peripheral nerve sheath tumors (MPNSTs). PMID: 28454108 Findings indicate neurofibromin 1 (NF1) as the most frequently occurring driver mutation in mucosal melanoma, and RAS alterations, consisting of NRAS and KRAS mutations, were the second most frequent mutation type. PMID: 28380455 Mutation in NF1 gene is associated with mucosal melanoma. PMID: 28296713 Results show that the NF1 protein negatively regulates Ccl5 expression through suppression of AKT/mTOR signaling. PMID: 28380429 The fusion transcript codes for a protein in which the last 114 amino acids of SETD2, i.e., the entire Set2 Rpb1 interacting (SRI) domain of SETD2, are replaced by 30 amino acids encoded by the NF1 sequence. PMID: 28498454 this studies show the ability of miR-10b to activate the expression of c-Jun through RhoC and NF1, which represents a novel pathway for promoting migration and invasion of human cancer cells PMID: 27494896 This study identifies a novel cohort of non-small cell lung cancer defined by NF1 mutation and suggests that ongoing therapeutic targeting strategies for KRAS tumors may also have efficacy in this population. PMID: 26861459 3 patients with urachal adenocarcinoma had neurofibromin 1 (NF1) mutations PMID: 27078850 the human nonsense NF1(Arg681) and missense NF1(Gly848Arg) mutations have different effects on neurofibromin expression in the mouse and each recapitulates unique aspects of the NF1 phenotype. PMID: 27482814 the NF1 phenotype and genotype were similar between children with and without Moyamoya syndrome (MMS). Interestingly, three children experienced tumors with malignant histology or behavior. The presence of two first cousins in our cohort suggested that there may be potential genetic factors, not linked to NF1, with an additional role respect of NF1 might play a role in MMS pathogenesis PMID: 28422438 the NF1-mutated subtype of melanoma had a higher mutational burden and strongest ultraviolet rays mutation signature. PMID: 28267273 A revised exon nomenclature system for NF1 is proposed based on the CDS coordinates of NM_000267.3ENST00000356175.7. This nomenclature differs from one in active use in the clinical community and represented on the Locus Reference Genomic sequence LRG_214/NG_009018.1. PMID: 28804759 Comprehensive genetic analysis reveals the primacy of NF1 loss as the driver of PN tumorigenesis. PMID: 28068329 In a coclinical trial to examine how the tumor microenvironment influences the response to multiagent chemotherapy, we found that stromal Nf1 status had no effect. PMID: 28646022 Loss of NF1 is associated with pathogenesis of malignant peripheral nerve sheath tumor. PMID: 27477693 Low NF1 expression is associated with Triple-Negative Breast Cancer. PMID: 28108518 Molecular characterization reveals NF1 deletions and FGFR1-activating mutations in a pediatric spinal oligodendroglioma PMID: 27862886 Report incidence of NF1 mutations/allelic loss in desmoplastic melanoma and suggest that the DM subtypes have distinct genetic drivers. PMID: 26980030 The EVH1 domain of Spred1 binds to the noncatalytic portion of the GAP-related domain of neurofibromin. PMID: 27313208 Loss of NF1 gene is associated with malignant peripheral nerve sheath tumors. PMID: 28124441 Study found that NF1 negatively regulates mTOR signaling in a LAMTOR1-dependent manner. In addition, the cell growth and survival of NF1-deficient cells have become dependent on hyperactivation of the mTOR pathway, and the tumorigenic properties of these cells have become dependent on LAMTOR1. PMID: 28174230 Mutations in neurofibromin 1 (NF1) are common in cancer, including melanoma, and targeting NF1-regulated pathways offers potential therapeutic options for the treatment of NF1 and melanoma. PMID: 28067895 found that homozygous Stat5 deficiency extended the lifespan of Nf1-deficient mice and eliminated the development of myeloproliferative neoplasm associated with Nf1 gene loss PMID: 27418650 summarise current knowledge about genotype-phenotype relationships in NF1 microdeletion patients and discuss the potential role of the genes located within the NF1 microdeletion interval whose haploinsufficiency may contribute to the more severe clinical phenotype PMID: 28213670 pathological role of c.853_854insTC mutation suggested PMID: 27374410 Notch is an Nf1 effector. PMID: 28423318 the results from our work show that the molecular basis of NF1 splicing mutations is diverse. Therefore, molecular characterization at both the gDNA and mRNA levels allowed for a better understanding of gDNA-mRNA correlations of NF1 mutations. PMID: 27074763 A novel frameshift mutation co-segregated with the disease diverse phenotypes among the affected members of a Chinese family. PMID: 27234610 Results suggest that the Neurofibromatosis 1-Noonan syndrome (NFNS) phenotype may be the result of both a genetic factor of mutation in the neurofibromin 1 gene (NF1) and an epigenetic/environmental factor. PMID: 27107091 The findings of this study suggest that the most childhood NF1-associated low-grade gliomas are midline and benign in nature, hemispheric NF1-related gliomas may have a more aggressive biological and clinical behavior. PMID: 27659822 The use of Next Generation Sequencing has proven to be effective as for costs, and time for analysis, and it allowed us to identify a patient with NF1 mosaicism. PMID: 27838393 Her-2, N-ras and Nf1 have roles in brain onocogenesis PMID: 27630302 A significant correlation between neurofibromin expression and colorectal tumor localization was found, with tumors arising in the colon showing intense NF expression more often than those arising in the rectum; higher expression of NF was more common in tumors not responding to treatment; and tumors with multiple metastases showed higher expression of NF than those with single metastasis PMID: 27798892 mutation in the NF1 gene is associated with Neurofibromatosis-Noonan Syndrome. PMID: 26758488 the computational model results have added credibility to the experimental hypothesis of a genetic cause (i.e. Nf1 mutation) for Congenital pseudarthrosis of the tibia PMID: 26822862 The pattern of growth differs substantially in deletion and non-deletion neurofibromatosis 1 patients, but the pathogenic basis for this difference is unknown. PMID: 26111455 Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions has been reported. PMID: 26614388

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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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