Recombinant Human Regulator of nonsense transcripts 3B (UPF3B)

Code CSB-YP883646HU
MSDS
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Source Yeast
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Code CSB-EP883646HU
MSDS
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Source E.coli
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Code CSB-EP883646HU-B
MSDS
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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-BP883646HU
MSDS
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Source Baculovirus
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Code CSB-MP883646HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
UPF3B
Uniprot No.
Alternative Names
UPF3B; RENT3B; UPF3X; Regulator of nonsense transcripts 3B; Nonsense mRNA reducing factor 3B; Up-frameshift suppressor 3 homolog B; hUpf3B; Up-frameshift suppressor 3 homolog on chromosome X; hUpf3p-X
Species
Homo sapiens (Human)
Expression Region
1-483
Target Protein Sequence
MKEEKEHRPK EKRVTLLTPA GATGSGGGTS GDSSKGEDKQ DRNKEKKEAL SKVVIRRLPP TLTKEQLQEH LQPMPEHDYF EFFSNDTSLY PHMYARAYIN FKNQEDIILF RDRFDGYVFL DNKGQEYPAI VEFAPFQKAA KKKTKKRDTK VGTIDDDPEY RKFLESYATD NEKMTSTPET LLEEIEAKNR ELIAKKTTPL LSFLKNKQRM REEKREERRR REIERKRQRE EERRKWKEEE KRKRKDIEKL KKIDRIPERD KLKDEPKIKV HRFLLQAVNQ KNLLKKPEKG DEKELDKREK AKKLDKENLS DERASGQSCT LPKRSDSELK DEKPKRPEDE SGRDYRERER EYERDQERIL RERERLKRQE EERRRQKERY EKEKTFKRKE EEMKKEKDTL RDKGKKAEST ESIGSSEKTE KKEEVVKRDR IRNKDRPAMQ LYQPGARSRN RLCPPDDSTK SGDSAAERKQ ESGISHRKEG GEE
Protein Length
full length protein
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
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, pH 8.0
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
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core.
Gene References into Functions
  1. The authors discovered that UPF3B (i) interacts with the release factors, (ii) delays translation termination and (iii) dissociates post-termination ribosomal complexes that are devoid of the nascent peptide. PMID: 28899899
  2. UPF3B gene mutation is associated with Lujan-Fryns syndrome. PMID: 26358559
  3. the neurodevelopmental phenotype of UPF3B missense mutation is caused by impairment of nonsense-mediated mRNA decay pathway function altering neuronal differentiation. PMID: 26012578
  4. These findings indicate that SATB2 activates UPF3B expression through binding to its promoter. PMID: 23925499
  5. Data indicate the mutation p.R430X of UPF3B gene as the genetic etiology in the mental retardation pedigree. PMID: 22957832
  6. results demonstrate that the UPF3B-dependent NMD pathway is a major regulator of the transcriptome and that its targets have important roles in neuronal cells. PMID: 22182939
  7. The two cases with renal dysplasia and developmental delay showed remarkable clinical variability despite having the same mutation in UPF3B. PMID: 22609145
  8. Our results demonstrate that in addition to Lujan-Fryns and FG syndromes, UPF3B protein truncation mutations can cause also nonspecific XLMR. PMID: 19238151
  9. 3.4 A resolution crystal structure of a minimal UPF3b-EJC assembly, consisting of the interacting domains of five proteins (UPF3b, MAGO, Y14, eIF4AIII, and Barentsz) together with RNA and adenylyl-imidodiphosphate PMID: 20479275
  10. A conserved domain of hUpf3b mediates an interaction with the EJC protein Y14. Y14 is required for nonsense-mediated decay induced by tethered hUpf3b. PMID: 12718880
  11. The protein region that mediates this interaction and discriminates between hUpf3a and hUpf3b in NMD function is located in the C-terminal domain and fully contained within a small sequence that is highly conserved in Upf3b but not Upf3a proteins PMID: 16601204
  12. UPF3B induces nonsense mediated decay in the cytoplasm PMID: 17194930
  13. Three mutations lead to the introduction of a premature termination codon and subsequent nonsense-mediated mRNA decay of mutant UPF3B mRNA. PMID: 17704778
  14. UPF2 and UPF3b cooperatively stimulate both ATPase and RNA helicase activities of UPF1. PMID: 18066079
  15. Results suggest that UPF3A levels are tightly regulated by a post-transcriptional switch to maintain appropriate levels of NMD substrates in cells containing different levels of UPF3B. PMID: 19503078
  16. binds to spliced mRNAs upstream of exon-exon junctions; is part of mRNP complexes that are ready for nuclear export and that participate in nonsense-mediated mRNA decay PMID: 11546873
  17. binds RNPS1 protein, part of the postsplicing complex deposited 5' to exon-exon junctions PMID: 11546874

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Involvement in disease
Mental retardation, X-linked, syndromic, 14 (MRXS14)
Subcellular Location
Nucleus. Cytoplasm. Note=Shuttling between the nucleus and the cytoplasm.
Protein Families
RENT3 family
Tissue Specificity
Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta.
Database Links

HGNC: 20439

OMIM: 300298

KEGG: hsa:65109

STRING: 9606.ENSP00000276201

UniGene: Hs.103832

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