PRPF8 Antibody, FITC conjugated

說明書

中文名稱：

PRPF8兔多克隆抗體, FITC偶聯
貨號：

CSB-PA744036LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) PRPF8 Polyclonal antibody
Uniprot No.：

Q6P2Q9
基因名：

PRPF8
別名：

220 kDa U5 snRNP specific protein antibody; 220 kDa U5 snRNP-specific protein antibody; Apoptosis regulated protein 1 antibody; Apoptosis regulated protein 2 antibody; HPRP8 antibody; p220 antibody; Pre mRNA processing factor 8 antibody; Pre mRNA-processing factor 8; S. cerevisiae; homolog of antibody; Pre-mRNA-processing-splicing factor 8 antibody; Precursor mRNA processing protein antibody; PRP8 antibody; PRP8 homolog antibody; PRP8 pre mRNA processing factor 8 homolog antibody; PRP8_HUMAN antibody; PRPC8 antibody; Prpf8 antibody; Retinitis pigmentosa 13 (autosomal dominant) antibody; RP13 antibody; SNRNP220 antibody; Splicing factor Prp8 antibody; U5 snRNP specific protein antibody; U5 snRNP specific protein (220 kD); ortholog of S. cerevisiae Prp8p antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Pre-mRNA-processing-splicing factor 8 protein (2037-2170AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome. Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site.
基因功能參考文獻：
1. Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted next-generation sequencing. Families with noted examples of phenotypic variation or apparent non-penetrant individuals may offer a clue to suspect complex inheritance. PMID: 28761320
2. Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8/SNRNP200 interactions in yeast. PMID: 29087248
3. HSP90/R2TP chaperone system promotes the assembly of a key module of U5 snRNP while assuring the quality control of PRPF8. The proteomics data further reveal new interactions between R2TP and the tuberous sclerosis complex, pointing to a potential link between growth signals and the assembly of key cellular machines. PMID: 28515276
4. influenza A virus upregulates cellular PRPF8 gene expression through viral NS1 protein and influenza virus polymerase basic protein 1 to increase virus production. PMID: 28110426
5. Our findings exemplify the regulatory potential of changes in the core spliceosome machinery, which may be relevant to slow-onset human genetic diseases linked to PRPF8 deficiency PMID: 26392272
6. Most importantly between Prp8 and nucleotides at the exon-intron junction. PMID: 26385511
7. A mutation in a splicing factor PRPF8 that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing. PMID: 24969741
8. Data suggest Enterovirus 3DPol (RNA-dependent RNA polymerase) enters nucleus via nuclear localization signal, targets pre-mRNA processing factor 8 (Prp8) to block pre-mRNA splicing/mRNA synthesis, and shuts off cellular transcription/translation. PMID: 24968230
9. In the cytoplasm, Prp8 forms a precursor complex with U5 snRNA PMID: 23727230
10. these data show how a Ski2-like RNA helicase Brr2 can be reversibly inhibited by a protein cofactor Prp8 that directly competes with RNA substrate binding. PMID: 23704370
11. This is the first report of marked intrafamilial variability associated with mutations in the PRPF8 gene, including incomplete penetrance. PRPF8 mutations should be suspected in patients with autosomal dominant retinitis pigmentosa. PMID: 22039234
12. RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Depleting PRPF8 in human cell lines alters alternative splicing. PMID: 21378395
13. Data screened retinitis pigmentosa patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. PMID: 20232351
14. Mutations in PRPC8 is associated with autosomal dominant retinitis pigmentosa PMID: 11910553
15. mutations revealed a novel insertion and deletion in the last exon of a splicing factor gene, PRPF8. PMID: 12601059
16. Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. PMID: 12714658
17. The gene for apoptosis regulated protein 2 (ARP2) overexpressed in apoptosis induced prostate cancer cell line LNCaP was cloned. PMID: 15786732
18. The PRPF8 gene mutation is associated with a mild phenotype in which cone function is partially preserved. PMID: 17061239
19. The expanded Prp8 Jab1/MPN domain represents a pseudoenzyme converted into a protein-protein interaction platform and that dysfunction of this platform underlies Retinitis pigmentosa. PMID: 17317632
20. The severe form of autosomal dominant retinitis pigmentosa (adRP) was caused by the PRPF8 H2309R variant, whereas the IVS41-4G-->A variant was benign. PMID: 18695108
21. Crystal structures of corresponding portions of yeast and human Prp8 that interact with functional regions of the pre-mRNA were determined, revealing a phylogenetically conserved RNase H fold, augmented by Prp8-specific elements. PMID: 18843295
22. The aim of this study was to use lymphoblast cell lines derived from retinitis pigmentosa patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing. PMID: 19096719
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相關疾?。?/div>
Retinitis pigmentosa 13 (RP13)
亞細胞定位：

Nucleus. Nucleus speckle.
組織特異性：

Widely expressed.
數據庫鏈接：

HGNC: 17340

OMIM: 600059

KEGG: hsa:10594

STRING: 9606.ENSP00000304350

UniGene: Hs.181368

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