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  4. Recombinant Human Folliculin (FLCN)

Recombinant Human Folliculin (FLCN)

  • 货号：
    CSB-YP008711HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP008711HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP008711HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP008711HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP008711HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    BHD; BHD skin lesion fibrofolliculoma protein; Birt Hogg Dube syndrome protein; Birt-Hogg-Dube syndrome protein; DKFZp547A118; FLCL; Flcn; FLCN_HUMAN; FLJ45004; FLJ99377; Folliculin; MGC17998; MGC23445
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-342
  • 氨基酸序列
    MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEGGIQMNSRMRA HSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDKETSIKYVSHQHPSHPQLFSI VRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRI YLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQRAQRMNTAFTPFLHQRNGNAARS LTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEGAPTEDTLVQMEKLAGEAGVLLPGP WPGWPWGGTSCLLSWQESLREGNAALNQPRTSLREAHPPISV
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3. Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RRAGC/RagC or RRAGD/RagD, promoting the conversion to the GDP-bound state of RRAGC/RagC or RRAGD/RagD, and thereby activating the kinase activity of mTORC1. The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients. Acts as a key component for mTORC1-dependent control of the MiT/TFE factors TFEB and TFE3, while it is not involved in mTORC1-dependent phosphorylation of canonical RPS6KB1/S6K1 and EIF4EBP1/4E-BP1. In low-amino acid conditions, the lysosomal folliculin complex (LFC) is formed on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, inactivates mTORC1 and maximizes nuclear translocation of TFEB and TFE3. Upon amino acid restimulation, RRAGA/RagA (or RRAGB/RagB) nucleotide exchange promotes disassembly of the LFC complex and liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent cytoplasmic retention of TFEB and TFE3. Indirectly acts as a positive regulator of Wnt signaling by promoting mTOR-dependent cytoplasmic retention of MiT/TFE factor TFE3. Required for the exit of hematopoietic stem cell from pluripotency by promoting mTOR-dependent cytoplasmic retention of TFE3, thereby increasing Wnt signaling. Acts as an inhibitor of browning of adipose tissue by regulating mTOR-dependent cytoplasmic retention of TFE3. In response to flow stress, regulates STK11/LKB1 accumulation and mTORC1 activation through primary cilia: may act by recruiting STK11/LKB1 to primary cilia for activation of AMPK resided at basal bodies, causing mTORC1 down-regulation. Together with FNIP1 and/or FNIP2, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy. Required for starvation-induced perinuclear clustering of lysosomes by promoting association of RILP with its effector RAB34.
  • 基因功能参考文献：
    1. Two FLCN mutations have been identified in Birt-Hogg-Dube syndrome patients: One is an insertion mutation previously reported in three Asian families; while the other is the first mutation (originally found in Asian populations) that has ever been detected in a French family. PMID: 29357828
    2. FLCN gene analysis revealed a heterozygous FLCN{NM_144997.5}:c.1285dupC mutation in all affected members. The clinical features of BHD syndrome are heterogeneous with wide intra-familial and interfamilial variation. It is caused by mutations of the FLCN gene. PMID: 28775225
    3. The molecular insight into the folliculin dynamics in the presence and absence of mutations may provide valuable information regarding the interactions essential for normal functioning of cellular process and the molecular basis of Birt-Hogg-Dube syndrome PMID: 27484154
    4. The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in Birt-Hogg-Dube syndrome and primary spontaneous pneumothorax, but also expands the spectrum of FLCN mutations. PMID: 28785590
    5. In the folliculin gene, a similar genotype spectrum but different mutant loci was determined in Chinese patients with Birt-Hogg-Dube syndrome compared with European and American patients. PMID: 28558743
    6. Germline mutations in the FLCN gene are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dube syndrome. PMID: 28970150
    7. Seventy-six of 156 FLCN mutation carriers (120 probands and 36 sibs, 48.7%) had skin papules; however, cutaneous manifestations were so subtle that only one patient voluntarily consulted dermatologists. Japanese Asian BHD families have three FLCN mutational hotspots. PMID: 27220747
    8. A nonsense mutation of FLCN was found in a spontaneous pneumothorax family. The results expand the mutational spectrum of FLCN in patients with Birt-Hogg-Dube syndrome. PMID: 27486260
    9. the study describes the FLCN mutation spectrum in Danish Birt-Hogg-Dube (BHD) syndrome patients, and contributes to a better understanding of BHD syndrome and management of BHD patients. PMID: 27734835
    10. We report Smith-Magenis syndrome who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region PMID: 27633572
    11. For patients whose clinical features are atypical, detection of germline mutation in FLCN gene would help confirm diagnosis. The 2 mutations we reported would expand the mutation spectrum of FLCN gene associated with BHD syndrome PMID: 27258496
    12. DNA sequence analyses determined that there was a two base pair deletion in exon 4 of the FLCN gene, confirming the diagnosis of BHD syndrome. PMID: 27780965
    13. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas PMID: 26342594
    14. FLCN irregulation in lung cysts of primary spontaneous pneumothorax is not associated with promoter methylation. PMID: 26398834
    15. mTOR inhibitor, sirolimus, suppresses the tumor's growth, suggesting that mTOR inhibitors might be effective in control of FLCN-deficient RCC. PMID: 26418749
    16. we show that glycogen accumulates in kidneys from mice lacking FLCN and in renal tumors from a BHD patient PMID: 26439621
    17. Case Report: FLCN deletion mutation in members of Indian Birt-Hogg-Dube syndrome family. PMID: 25827758
    18. This report documents the first identification of founder mutations in FLCN, as well as expands mutation spectrum of the gene PMID: 25807935
    19. FLCN-related renal cell carcinomas showed overexpression of GPNMB and underexpression of FLCN, whereas sporadic tumors showed inverted patterns. PMID: 25594584
    20. The FLCN-GABARAP association is modulated by the presence of either folliculin-interacting protein (FNIP)-1 or FNIP2 and further regulated by ULK1. PMID: 25126726
    21. Two predominant genes, ephrin type A receptor 6 (EPHA6) and folliculin (FLCN), with mutations exclusive to African American CRCs, are by genetic and biological criteria highly likely African American CRC driver genes. PMID: 25583493
    22. Findings suggest that folliculin deficient renal cell carcinoma cells are highly sensitive to irradiation due to increased autophagic cell death, unlike other types of renal cell carcinoma. PMID: 24434776
    23. A rare mutation of the folliculin gene was detected in the patient and family members with Birt-Hogg-Dube syndrome with pulmonary cysts or pneumothorax, but no skin or renal lesions. PMID: 24346394
    24. Birt-Hogg-Dube (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. PMID: 24996715
    25. loss of FLCN constitutively activates AMPK, resulting in PGC-1alpha-mediated mitochondrial biogenesis and increased ROS production PMID: 24762438
    26. FLCN germ-line mutation is associated with spontaneous pneumothorax and renal cancer PMID: 23264078
    27. Results suggest that Birt-Hogg-Dube (BHD)syndrome-causing FLCN mutants may retain partial functionality. Thus, several BHD symptoms may be due to abnormal levels of FLCN rather than its complete loss. PMID: 23784378
    28. Tumor suppression function of FLCN may be linked to its impact on the cell cycle. PMID: 23874397
    29. FLCN localizes to motile and non-motile cilia, centrosomes and the mitotic spindle. Alteration of FLCN levels can cause changes to the onset of ciliogenesis. In three-dimensional culture, abnormal expression of FLCN disrupts polarized growth of kidney cells and deregulates canonical Wnt signalling. Findings suggest that BHD is a ciliopathy, with symptoms at least partly due to abnormal ciliogenesis. PMID: 23784378
    30. Birt-Hogg-Dube syndrome in a patient with melanoma and a novel mutation in the FCLN gene. PMID: 23414156
    31. FLCN functions as a tumor suppressor by negatively regulating rRNA synthesis. PMID: 23077212
    32. Germline mutation analysis of the FCLN gene in mother and daughter cases with renal cell neoplasms showed a deletion of 18 bp in exon 5(c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of "HPSHPQ" replaced by a single amino acid, "L". PMID: 22211584
    33. Findings suggest that aspects of folliculin tumour suppressor function are linked to interaction with p0071 and the regulation of RhoA signalling. PMID: 22965878
    34. These data support a model in which dysregulation of the FLCN-p0071 interaction leads to alterations in cell adhesion, cell polarity, and RhoA signaling. PMID: 23139756
    35. These findings identify novel pathways and targets linked to folliculin tumour suppressor activity. PMID: 23155228
    36. FLCN deficiency and subsequent increased PPARGC1A expression result in increased mitochondrial function and oxidative metabolism as the source of cellular energy, which may drive hyperplastic transformation. PMID: 23150719
    37. Study reports a novel in-frame deletion mutation p.F143del (c.427_429delTTC) in exon 6 of FLCN gene in a Korean proband and her two sisters. PMID: 22446046
    38. confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers PMID: 22146830
    39. FLCN mutations throughout the coding sequence, and suggest that multiple protein domains contribute to folliculin stability and tumor suppressor activity. PMID: 21538689
    40. Birt-Hogg-Dube (BHD) protein-deficient cells exhibited defects in cell-intrinsic apoptosis that correlated with reduced expression of the BH3-only protein Bim, which was similarly observed in all human and mouse BHD-related tumors examined. PMID: 21258407
    41. Data show that FLCN mutations were found in 9 of 19 (47%) families. PMID: 20618353
    42. This report confirms that large intragenic FLCN deletions can cause Birt-Hogg-Dube syndrome and documents the first large intragenic FLCN duplication in a Birt-Hogg-Dube syndrome patient PMID: 21412933
    43. Genetic testing for Birt-Hogg-Dube should be considered in the treatment algorithm of patients with bilateral renal masses and known oncocytoma PMID: 21496834
    44. FLCN tumor suppressor gene inactivation induces TFE3 transcriptional activity by increasing its nuclear localization PMID: 21209915
    45. plays role in tumor suppression and inhibition on rapamycin pathway PMID: 21079084
    46. Data show that germline FLCN mutations were not detected in 50 patients with familial non-syndromic colorectal cancer. PMID: 20522427
    47. An Birt-Hogg-Dube syndrome protein germline mutation was found in 23 (63.9%) of the 36 patients. A large genomic deletion was identified in two of the remaining 13 patients. PMID: 20413710
    48. We report cases involving a new mutation in three unrelated families of Birt-Hogg-Dube syndrome. PMID: 20227563
    49. Mutations lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome PMID: 12204536
    50. Clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects PMID: 12471204

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  • 相关疾病：
    Birt-Hogg-Dube syndrome (BHD); Primary spontaneous pneumothorax (PSP); Renal cell carcinoma (RCC)
  • 亚细胞定位：
    Lysosome membrane. Cytoplasm, cytosol. Cell projection, cilium. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus.
  • 蛋白家族：
    Folliculin family
  • 组织特异性：
    Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach.
  • 数据库链接：

    HGNC: 27310

    OMIM: 135150

    KEGG: hsa:201163

    STRING: 9606.ENSP00000285071

    UniGene: Hs.31652