Recombinant Human U6 snRNA phosphodiesterase 1 (USB1 C16orf57 Mpn1)

Code CSB-YP2288HU
MSDS
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Source Yeast
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Code CSB-EP2288HU
MSDS
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Source E.coli
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Code CSB-EP2288HU-B
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Source E.coli
Conjugate 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.
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Code CSB-BP2288HU
MSDS
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Source Baculovirus
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Code CSB-MP2288HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
USB1
Uniprot No.
Alternative Names
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
Species
Homo sapiens (Human)
Tag Info
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.
Form
Liquid or 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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose.
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

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Target Background

Function
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.
Gene References into Functions
  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

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Involvement in disease
Poikiloderma with neutropenia (PN)
Subcellular Location
Nucleus.
Protein Families
2H phosphoesterase superfamily, USB1 family
Database Links

HGNC: 25792

OMIM: 604173

KEGG: hsa:79650

STRING: 9606.ENSP00000219281

UniGene: Hs.408702

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