SF3B4 Antibody
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货号:CSB-PA021128GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q15427
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基因名:SF3B4
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别名:AFD1 antibody; Hsh49 antibody; MGC10828 antibody; Pre mRNA splicing factor SF3b 49 kDa subunit antibody; Pre-mRNA-splicing factor SF3b 49 kDa subunit antibody; SAP 49 antibody; SAP49 antibody; Sf3b4 antibody; SF3B4_HUMAN antibody; SF3b49 antibody; SF3b50 antibody; Spliceosomal protein antibody; Spliceosome associated protein (U2 snRNP) antibody; Spliceosome associated protein 49 antibody; Spliceosome-associated protein 49 antibody; Splicing factor 3b subunit 4 49kDa antibody; Splicing factor 3B subunit 4 antibody
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宿主:Rabbit
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反应种属:Human,Mouse,Rat
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免疫原:Human SF3B4
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免疫原种属:Homo sapiens (Human)
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抗体亚型:IgG
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纯化方式:Antigen Affinity Purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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产品提供形式:Liquid
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应用范围:ELISA,WB,IHC
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Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能:Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. SF3B4 has been found in complex 'B' and 'C' as well. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron.
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基因功能参考文献:
- SF3B4 indicates early-stage hepatocellular carcinoma in precancerous lesions, and also functions as an early-stage driver in the development of liver cancer. PMID: 29397868
- We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. PMID: 27642715
- A novel synonymous variant within exon 3 of the SF3B4 gene was identified in three members of a family affected by Nager syndrome. PMID: 27966544
- Chemical shift mapping showed that the SF3b145 fragment spanning residues 598-631 interacts with SF3b49 RRM1, which adopts a canonical RRM fold with a topology of beta1-alpha1-beta2-beta3-alpha2-beta4. PMID: 27862552
- SF3B4 mutations identified in Rodriguez Acrofacial Dysostosis patients disrupted mRNA splicing and reduced expression of DLX5, DLX6, SOX9, and SOX6 in cultured chondrocytes. PMID: 27622494
- splicing factor 3b subunit 4 was found to inhibit the activity of signal transducer and activator of transcription 3 signaling via downregulating the phosphorylation of signal transducer and activator of transcription 3 on a tyrosine residue at position 705. PMID: 28351319
- Overexpression of SF3B4, that is due to DNA copy number increase, is suggested to play a role in progression of HCC PMID: 27127115
- High SF3B4 expression is associated with hepatocellular carcinoma. PMID: 25731616
- SF3B4 haploinsufficiency confirmed as the major cause of Nager syndrome. PMID: 24003905
- SF3B4 mutation is associated with Nager syndrome. PMID: 23568615
- These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4. PMID: 22541558
- Inhibiting the induction of two proteins involved in two of the most significantly upregulated cellular processes, ribosome biogenesis (eIF6) and hnRNA splicing (SF3B2/SF3B4), showed that human T cells can enter the cell cycle without growing in size. PMID: 22415777
- determined the three-dimensional structure of the human SF3b complex by single-particle electron cryomicroscopy at a resolution of less than 10 angstroms, allowing identification of protein domains with known structural folds PMID: 12738865
- SAP49 is regulated by the BMPR-IA tumor suppressor PMID: 15351706
- SF3b4, known to be localized in the nucleus and involved in RNA splicing, binds BMPR-IA and specifically inhibits BMP-mediated osteochondral cell differentiation PMID: 17513295
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相关疾病:Acrofacial dysostosis 1, Nager type (AFD1)
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亚细胞定位:Nucleus.
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蛋白家族:SF3B4 family
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数据库链接:
HGNC: 10771
OMIM: 154400
KEGG: hsa:10262
STRING: 9606.ENSP00000271628
UniGene: Hs.516160
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