Recombinant Human Four and a half LIM domains protein 1 (FHL1)

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中文名稱：

人FHL1重組蛋白
貨號：

CSB-EP619784HU
說明書：

MSDS Datasheet
規(guī)格：

￥1536
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
基因名：

FHL1
Uniprot No.：

Q13642
別名：

Skeletal muscle LIM-protein 1 (SLIM) (SLIM-1)
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
來源：

E.coli
分子量：

40.3 kDa
表達(dá)區(qū)域：

2-323aa
氨基酸序列

AEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAKNAP
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

N-terminal 6xHis-tagged
產(chǎn)品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
復(fù)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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)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.
貨期：

3-7 business days
注意事項(xiàng)：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產(chǎn)品評價

靶點(diǎn)詳情

功能：

May have an involvement in muscle development or hypertrophy.
基因功能參考文獻(xiàn)：
1. FHL1 increase inhibitory CDC25 phosphorylation by forming a complex with CHK2 and CDC25, and sequester CDC25 in the cytoplasm by forming another complex with 14-3-3 and CDC25, resulting in increased radioresistance in cancer cells. PMID: 28094252
2. FHL1 promote paclitaxel resistance in hepatocellular carcinomas cells through regulating apoptosis induced by paclitaxel, suggesting that FHL1 may be a promising molecular target for Hepatocellular carcinoma therapy. PMID: 30249901
3. Altogether, the specific localization of FHL1B and its modulation in disease-patient's myoblasts confirmed FHL1-related Emery-Dreifuss muscular dystrophy as a nuclear envelope disease. PMID: 27911330
4. Low FHL1 expression is associated with head and neck squamous cell carcinoma. PMID: 26908444
5. We have uncovered FHL1 as a novel potential regulator of calcium homeostasis in both fish and humans and have implicated it in isolated hypoparathyroidism. PMID: 28444561
6. Mutations in FHL1 cause unclassifiable cardiomyopathy with coexisting Emery-Dreifuss muscular dystrophy. PMID: 26857240
7. results provide evidence that FHL1A interacts with PLEKHG2 and regulates cell morphological change through the activity of PLEKHG2. PMID: 27765816
8. a novel FHL1 splice site variant results in the absence of FHL1A and the abundance of FHL1C, which may contribute to the complex and severe phenotype of Uruguay syndrome. PMID: 26933038
9. Knockdown of FHL1 with FHL1 small interfering RNA (siRNA) promoted tumor growth and Cyclin D and cyclin E were markedly elevated at both the protein and mRNA level. PMID: 26017856
10. results indicate that anti-FHL1 autoantibodies in peripheral blood have promising potential as a biomarker to identify a subset of severe IIM. PMID: 26551678
11. In healthy individuals, FHL1A is the predominant splice variant and is mainly found in skeletal and cardiac muscle. In two individuals with an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology, there was demonstrated loss of isoform A and B, and an almost 200-fold overexpression of isoform C. PMID: 25724586
12. FRG1 mice overexpressing FHL1 showed an improvement in the dystrophic phenotype PMID: 25695429
13. FHL1 shRNA could significantly accelerate tumor cell growth via inhibiting the expression of FHL1 PMID: 26146054
14. Our results suggest that miR-410 may function as an oncomiR and are consistent with its key function in regulating FHL1 in certain digestive system cancers. PMID: 25272045
15. These data suggested that up-regulated FHL1 in smooth muscle in HSCR might be associated with intestinal wall remodeling in HSCR and might be one of the risk factors for gastrointestinal motor dysfunction PMID: 24516350
16. This is the first study to show that FHL1 mutations identified in several clinically distinct myopathies lead to similar protein aggregation and impair myotube formation. PMID: 24634512
17. The study has revealed that FHL1C overexpression induces Jurkat cell apoptosis. PMID: 24952875
18. FHL-1 is the predominant complement regulator in Bruch's membrane having direct implications for age-related macular degeneration. PMID: 25305316
19. Data indicate that four-and-a-half LIM domain 1 gene FHL1 mutation causing isolated hypertrophic cardiomyopathy with X-chromosomal inheritance. PMID: 24114807
20. Data show that loss of FHL1 function leads to myopathy in vivo and suggest that loss of function of FHL1 may be one of the mechanisms underlying muscle dystrophy in patients with FHL1 mutations. PMID: 23975679
21. mutation of FHL1 confers a complex phenotype through both gain- and loss-of-function mechanisms PMID: 23456229
22. This study demonistrated that the expand the morphologic features of reducing body myopathy , clearly demonstrate the localization of FHL1 in skeletal muscles. PMID: 23965743
23. FHL1 downregulation is associated with oral squamous cell carcinoma. PMID: 23123766
24. FHL1 is a methylation-silenced tumor-suppressor gene on chromosome X in gastrointestinal cancers, and that its silencing contributes to the formation of an epigenetic field for cancerization. PMID: 22689052
25. A mother, daughter, and son suffering from FHL1 myopathy have a mutation in the second LIM domain of fhl1 with musculoskeletal involvement. PMID: 22541254
26. C224W mutation of FHLi protein had slightly elevated pulmonary artery pressure PMID: 22923418
27. performed a clinical, muscle MRI, and histopathological characterization and immunoblot and genetic analysis of the FHL1 protein in a family with 4 individuals affected by reducing body myopathy. Identified a novel missense mutation in FHL1 PMID: 23169582
28. FHL1 is a novel disease gene for hypertrophic cardiomyopathy. PMID: 22523091
29. A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics. PMID: 22778266
30. The decrease in or loss of FHL1 expression may be related to the incidence, progression, invasiveness, and metastatic potential of gastric cancer. PMID: 22143536
31. reduced expression of FHL1 may play an important role in the development and progression of lung cancer. PMID: 21702045
32. FHL1-3 inhibit HIF-1 transcriptional activity and HIF-1alpha transactivation domain function by oxygen-independent mechanisms. PMID: 22219185
33. In order to substantiate a possible relation between K(v1.5) and FHL1C, a pull-down assay was performed. PMID: 22053194
34. FHL-1 may regulate estrogen receptor signaling function through regulation of AKT activation besides the physical and functional interaction with Estrogen receptor alpha. PMID: 22094188
35. FHL1 dystrophies are associated with myofibrillar myopathies pathology; mutations in the LIM2 domain are associated with reducing bodies composed of distinct tubulofilaments. PMID: 22094483
36. We report on three British families with a heterogeneous myopathy clinical presentation segregating a single FHL1 gene mutation and haplotype, suggesting that this represents a founder mutation. PMID: 21629301
37. This review will profile each of the FHL1, with a comprehensive analysis of mutations, a comparison of the clinical and histopathological features and will present several hypotheses for the possible disease mechanism(s)--{REVIEW} PMID: 21310615
38. FHL1 protein expression is downregulated in thoracic aortic dissection. PMID: 21126853
39. These results indicate that USP15 is involved in the regulation of hypertrophic responses in cardiac muscle through transcriptional and post-translational modulation of SLIM1. PMID: 21219870
40. FHL1B/PP2A(Cbeta) interaction may illustrate a novel cell-cycle regulatory pathway. PMID: 20969868
41. A novel missense mutation in the LIM2 domain of FHL1 co-segregated with X-linked scapuloperoneal myopathy in the family PMID: 20633900
42. Expression levels of FHL1 mRNA increased in all cell lines tested, as shown by RT-PCR. The methylation index of FHL1 in our samples was significantly higher in 70 BC specimens than in 10 normal bladder epithelium specimens. PMID: 20596604
43. This study reported a novel LIM2 domain mutation in FHL1 in a family with Reducing body myopathy with cytoplasmic bodies and spinal rigidity. PMID: 20571991
44. Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes. PMID: 20186852
45. SLIM1 may play an important role during the early stages of skeletal muscle differentiation, specifically in alpha5beta1-integrin-mediated signaling pathways PMID: 12917103
46. FHL1 is a novel regulator of myosin-binding protein C activity that may have a role in sarcomere assembly PMID: 16407297
47. Fasting insulin and insulin sensitivity index responses to exercise training were associated with DNA sequence variation in FHL1 in white men. PMID: 17589823
48. These results characterize TLX1 as a dual function regulator whose activity in respect to FHL1 is critically dependent upon its cellular concentration, as well as cell type and promoter context. PMID: 18073142
49. Study characterized a new disorder, X-linked myopathy with postural muscle atrophy (XMPMA), and identified FHL1 as the causative gene. PMID: 18179888
50. In a large Italian-American pedigree with dominant Scapuloperoneal syndrome all of the affected individuals have a missense change (c.365G-->C) in the FHL1 gene encoding FHL1. PMID: 18179901
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相關(guān)疾病：

Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6); Scapuloperoneal myopathy, X-linked dominant (SPM); Myopathy, X-linked, with postural muscle atrophy (XMPMA); Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A); Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B)
亞細(xì)胞定位：

[Isoform 1]: Cytoplasm.; [Isoform 3]: Cytoplasm. Nucleus.; [Isoform 2]: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.
組織特異性：

Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and peripheral blood le
數(shù)據(jù)庫鏈接：

HGNC: 3702

OMIM: 300163

KEGG: hsa:2273

STRING: 9606.ENSP00000071281

UniGene: Hs.435369