Recombinant Human Nesprin-1 (SYNE1), partial

中文名稱：

人SYNE1重組蛋白
貨號(hào)：

CSB-YP843344HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人SYNE1重組蛋白
貨號(hào)：

CSB-EP843344HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人SYNE1重組蛋白
貨號(hào)：

CSB-EP843344HU-B
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
共軛：

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：

中文名稱：

人SYNE1重組蛋白
貨號(hào)：

CSB-BP843344HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人SYNE1重組蛋白
貨號(hào)：

CSB-MP843344HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

SYNE1
Uniprot No.：

Q8NF91
別名：

8B; ARCA1; C6orf98; CPG2; CPG2 full length; dJ45H2.2; EDMD4; Enaptin; Myne-1; MYNE1; Myocyte nuclear envelope protein 1; Nesp1; Nesprin 1; Nesprin-1; Nuclear envelope spectrin repeat protein 1; SCAR8; Spectrin repeat containing nuclear envelope 1; Synaptic nuclear envelope protein 1; Synaptic nuclei expressed gene 1; Syne-1; SYNE1; SYNE1_HUMAN; SYNE1B
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標(biāo)簽：

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.
產(chǎn)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.
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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲(chǔ)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：

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.
注意事項(xiàng)：

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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.
基因功能參考文獻(xiàn)：
1. The functional integrity of lamin and nesprin-1 is thus required to modulate the FHOD1 activity and the inside-out mechanical coupling that tunes the cell internal stiffness to match that of its soft, physiological-like environment. PMID: 28455503
2. Authors screened 937 BPD samples for genetic variation in SYNE1 exons 14-33, which covers the CPG2 region, using high-resolution melt analysis. Nine patients are compound heterozygotes for variants in SYNE1/CPG2, suggesting that rare coding variants may contribute significantly towards the complex genetic architecture underlying BPD. PMID: 28178086
3. The frequency of CACNA1C rs10848683 in genetic high-risk individuals was double that in controls. For SYNE1 rs214950, higher frequencies were found in the genetic high-risk group than in controls. Polymorphisms in CACNA1C and SYNE1 could confer a greater risk of developing Schizophrenia and Bipolar Disorder in individuals who are already at high risk because of their family history. PMID: 27620326
4. three novel rare variants (R8272Q, S8381C and N8406K) in the C-terminus of the SYNE1 gene (nesprin-1) were identified in seven dilated cardiomyopathy patients by mutation screening. Expression of these mutants caused nuclear morphology defects and reduced lamin A/C and SUN2 staining at the Nuclear envelope. PMID: 28398466
5. We reported a novel mutation in exon 46 on codon 2304 (G2304R) of the SYNE1 gene in a Chinese family with Emery-Dreifuss muscular dystrophy-like features, and 100 healthy individuals did not show such mutation. PMID: 28583108
6. Nonsense mutation in the ultimate exon of full-length SYNE1 causes congenital onset of muscular weakness with distal arthrogryposis. PMID: 27782104
7. The results show that nesprin-1-alpha2 is dynamically controlled and may be involved in some process occurring during early myofibre formation, such as re-positioning of nuclei. PMID: 27350129
8. findings revise the view that SYNE1 ataxia causes mainly a relatively pure cerebellar recessive ataxia and that it is largely limited to Quebec. Instead, complex phenotypes with a wide range of extra-cerebellar neurological and nonneurological dysfunctions are frequent, including in particular motor neuron and brainstem dysfunction. PMID: 27086870
9. This study demonstrate four novel truncating mutations in SYNE1 in pedigrees from British, Sri Lankan and Turkish origin in patient with cerebellar ataxia. PMID: 27178001
10. A full length transcript homologous to rat CPG2 exists within human SYNE1. A full length transcript homologous to rat CPG2 exists within human SYNE1. PMID: 26704904
11. SNP rs79575945 in ESR1 gene is associated with cancers of endometrioid subtype and resulted in the expression of SYNE1. PMID: 26330482
12. Mechanostimulation mediates nuclear changes in oligodendrocyte progenitor cells via the SYNE1 complex. PMID: 26791211
13. our data suggest that SYNE1 and FOXE1 are promising markers for colorectal cancer detection. PMID: 25538088
14. Drosophila melanogaster larval muscles, exhibiting both elastic features contributed by the stretching capacity of MSP300 (nesprin) and rigidity provided by a perinuclear network of microtubules stabilized by Shot (spectraplakin) and EB1. PMID: 26008743
15. ur results show that SNPs rs9371601 and rs3093664 in the SYNE1 and TNF genes respectively, are associated with menstrual migraine. PMID: 25315199
16. A report of a family with a SYNE1 gene mutation that seems to cause an "Emery-Dreifuss muscular dystrophy-like" phenotype. PMID: 25091525
17. a role for Nesprin-1 in the DNA damage response pathway PMID: 24781983
18. FOXE1 and SYNE1 hypermethylation markers demonstrated significantly increased expression in neoplastic tissue. PMID: 24280874
19. These data identify p50(Nesp1) as a multi-functional P-body component and microtubule scaffold necessary for RNA granule dynamics and provides evidence for P-body and stress granule micro-heterogeneity. PMID: 24862572
20. role of CSMD1 and SYNE1 in the etiology of bipolar disorder PMID: 24387768
21. Two novel truncating mutations were found among the French-Canadian participants, and 2 other novel mutations were found in a patient from France and a patient from Brazil. PMID: 23959263
22. The findings of this study add to the evidence that association of SYNE1 mutation influences susceptibility to bipolar and unipolar mood disorders. PMID: 22565781
23. we report 4 novel homozygous SYNE1 mutations in 3 Japanese patients with cerebellar ataxia PMID: 23325900
24. These results indicate that nesprin-1 knockdown releases the nucleus from the tension of F-actin bound to the nucleus, thereby increasing allowance for deformation before stretching, and that F-actin bound to the nucleus through nesprin-1 causes sustainable force transmission to the nucleus. PMID: 22728879
25. analysis of nsprin-1 mutations in human and murine cardiomyopathy PMID: 19944109
26. Nesprin-1 depletion increased the number of focal adhesions and substrate traction while decreasing the speed of cell migration PMID: 20655839
27. a single nucleotide polymorphism downstream of ESR1, a gene called spectrin repeat containing, nuclear envelope 1, was associated with invasive ovarian cancer risk PMID: 20056644
28. Vertebrate Nesprin-1 and nesprin-2 proteins are orthologous to Drosophila melanogaster muscle protein MSP-300 PMID: 12408964
29. The role of Syne-1 in cytokinesis involves an interaction with kinesin II. PMID: 14709720
30. Enaptin is an element of the nuclear membrane and the actin cytoskeleton. PMID: 15093733
31. The Nesprin-1 is essential for the interaction with a C-terminal region in SUN1 protein. PMID: 16079285
32. These findings indicate that GSRP-56 is a small Golgi-localized splice-isoform of the spectrin-repeat-containing Syne1 gene. PMID: 16875688
33. SYNE1 is the first identified gene responsible for a recessively inherited pure cerebellar ataxia. PMID: 17159980
34. This study identified a cluster of French-Canadian families with a new recessive ataxia of relatively pure cerebellar type caused by mutations in SYNE1. PMID: 17503513
35. Loss of Drop1 expression at early stages in carcinomas of the uterus, cervix, kidney, lung, thyroid and pancreas. PMID: 18709643
36. splice site mutation of SYNE-1 gene found in the family is responsible for arthrogryposis multiplex congenita. PMID: 19542096
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相關(guān)疾病：

Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8); Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
亞細(xì)胞定位：

Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.; [Isoform GSRP-56]: Golgi apparatus.
蛋白家族：

Nesprin family
組織特異性：

Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predomi
數(shù)據(jù)庫鏈接：

HGNC: 17089

OMIM: 608441

KEGG: hsa:23345

STRING: 9606.ENSP00000356224

UniGene: Hs.12967