Recombinant Human U6 snRNA phosphodiesterase 1 (USB1 C16orf57 Mpn1)

中文名稱：
貨號：

CSB-YP2288HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：
貨號：

CSB-EP2288HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：
貨號：

CSB-EP2288HU-B
說明書：

MSDS Datasheet
規格：
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：
貨號：

CSB-BP2288HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：
貨號：

CSB-MP2288HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

USB1
Uniprot No.：

Q9BQ65
別名：

U6 snRNA phosphodiesterase 1; hUsb1; 3'-5' RNA exonuclease USB1; EC 4.6.1.-; Mutated in poikiloderma with neutropenia protein 1; Mutated in PN protein 1; hMpn1; USB1 C16orf57 Mpn1
種屬：

Homo sapiens (Human)
蛋白標簽：

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 668
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.
儲存條件：

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

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：

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.

產品評價

靶點詳情

功能：

Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate.
基因功能參考文獻：
1. this paper describes USB1 mutations characterized in four Moroccan patients out of three unrelated consanguinous families PMID: 28353165
2. Data indicate the enzymatic activities and structures of yeast and human U6 RNA processing enzyme Usb1. PMID: 28887445
3. marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID: 27612988
4. USB1 genes from myelodysplastic and myelodysplastic/myeloproliferative neoplasms and AML had 3 unreported variants, 2 in USB1 5'UTR (c.-83G>T and c.-66A>G), 1 in IVS3 (c.450-68dupT) and 1 (<1%) in IVS4 (c.587+21A>G/rs200924980) were detected. PMID: 26306619
5. the link between Mpn1 and snRNA stability PMID: 26213367
6. Mpn1 associates with the NineTeen Complex, a multiprotein complex that is essential for the maintenance of spliceosome integrity and efficient splicing. [Review] PMID: 23684637
7. Data indicate that USB1 measures the appropriate length of the U6 oligo(U) tail by reading the position of a key adenine nucleotide (A102) and pausing 5 uridine residues downstream. PMID: 23190533
8. Recombinant hMpn1 is a 3'-to-5' RNA exonuclease that removes uridines from U6 3' ends, generating terminal 2',3' cyclic phosphates in vitro. PMID: 23022480
9. characterization of 6 Poikiloderma with Neutropenia patients and mutational repertoire of the gene; detected 2 novel C16orf57 mutations, c.232C>T and c.265 2T>G and the reported c.179delC, c.531delA and c.693 1G>T mutations; bioinformatic prediction of the C16orf57 protein structure denotes a very basic enzymatic function consistent with a housekeeping function PMID: 22269211
10. We report three cases of poikiloderma with neutropenia whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis. PMID: 21967010
11. Advanced bioinformatics predicted that C16orf57 encodes a phosphodiesterase whose putative catalytic activity is essential for its function in vivo PMID: 22899009
12. Mutations of the C16orf57 gene permit the unification of a distinct group of genetic polikilodermal dermatoses that can be diagnosed as congenital dyskeratosis, Rothmund-Thomson syndrome, poikiloderma-neutropenia. PMID: 21497268
13. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. PMID: 21271650
14. findings suggest that mutations in C16orf57 unify a distinct set of families which clinically can be categorized as DC, PN or RTS. PMID: 20817924
15. report on detailed clinical features of three siblings affected with Clericuzio poikiloderma with neutropenia syndrome, all carrying the same homozygous c.504-2A>Cmutation at the acceptor splice site of intron 4 of C16orf57 gene PMID: 20734427
16. c16orf57 has a role in clericuzio-type poikiloderma with neutropenia PMID: 20004881
顯示更多

收起更多
相關疾?。?/div>
Poikiloderma with neutropenia (PN)
亞細胞定位：

Nucleus.
蛋白家族：

2H phosphoesterase superfamily, USB1 family
數據庫鏈接：

HGNC: 25792

OMIM: 604173

KEGG: hsa:79650

STRING: 9606.ENSP00000219281

UniGene: Hs.408702