Recombinant Human Myotubularin-related protein 13 (SBF2), partial

Code CSB-YP773047HU
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Source Yeast
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Code CSB-EP773047HU
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Source E.coli
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Code CSB-EP773047HU-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-BP773047HU
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Source Baculovirus
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Code CSB-MP773047HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
SBF2
Uniprot No.
Alternative Names
SBF2; CMT4B2; KIAA1766; MTMR13; Myotubularin-related protein 13; Inactive phosphatidylinositol 3-phosphatase 13; SET-binding factor 2
Species
Homo sapiens (Human)
Protein Length
Partial
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.

Customer Reviews and Q&A

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Target Background

Function
Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion. Acts as an adapter for the phosphatase MTMR2. Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate.
Gene References into Functions
  1. Rare variants in SBF2 predict an increased risk of taxane-induced peripheral neuropathy in African American breast cancer patients receiving paclitaxel. PMID: 27732968
  2. SBF2, encoding another myotubularin member MTMR13, may promote the progression of pancreatic cancer via the TGF-beta signaling by raising the activated R-SMADs and decreasing inhibitory SMAD-7. PMID: 25882882
  3. Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. PMID: 25648148
  4. SBF2 frameshift mutation is associated with charcot-marie-tooth disease type 4B2. PMID: 25462154
  5. Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing. PMID: 23334996
  6. Germline genetic variation in the SBF2 locus was associated with overall survival in patients with pancreatic adenocarcinoma of European and Asian ancestry. PMID: 23180869
  7. REVIEW : MTMR13 and homologous proteins are mutated in several neuromuscular diseases PMID: 18429927
  8. A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex PMID: 18774718
  9. Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork PMID: 12687498
  10. A loss-of-function mutation in SBF2/MTMR13 causes CMT4B with early-onset glaucoma, possibly by degradation of SBF2 mRNA thru the nonsense mutation decay pathway. PMID: 15304601
  11. The first evidence of a mutation in the splicing site of the SBF2 gene, confirming that mutations in the SBF2 gene are causative of the CMT4B2 subtype of Charcot-Marie-Tooth disease. PMID: 15477569
  12. Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. PMID: 15998640
  13. review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies PMID: 17880751
  14. FLNB and SBF2 are associated with human stature. PMID: 19039035

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Involvement in disease
Charcot-Marie-Tooth disease 4B2 (CMT4B2)
Subcellular Location
Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Cell projection, axon.
Protein Families
Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily
Tissue Specificity
Widely expressed. Expressed in spinal cord.
Database Links

HGNC: 2135

OMIM: 604563

KEGG: hsa:81846

STRING: 9606.ENSP00000256190

UniGene: Hs.577252

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