Recombinant Human SET-binding protein (SETBP1), partial

中文名稱：

人SETBP1重組蛋白
貨號：

CSB-YP896935HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人SETBP1重組蛋白
貨號：

CSB-EP896935HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人SETBP1重組蛋白
貨號：

CSB-EP896935HU-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：

人SETBP1重組蛋白
貨號：

CSB-BP896935HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人SETBP1重組蛋白
貨號：

CSB-MP896935HU
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：

SETBP1
Uniprot No.：

Q9Y6X0
別名：

SEB; SET binding protein 1; SET-binding protein; SETBP 1; SETBP_HUMAN; Setbp1
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
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：

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.
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

基因功能參考文獻：
1. Data indicate a SET binding protein 1 (SETBP1) function that directly affects gene transcription. PMID: 29875417
2. SETBP1 mutations were a rare molecular event in acute myeloid leukemia and myelodysplastic syndrome patients PMID: 29549983
3. we report here for the first time changes in the allele frequencies of CSF3R-T618I and SETBP1-G870S with response to ruxolitnib as well as insights into the clonal evolution of CNL under selective pressure from ruxolitinib. PMID: 28209656
4. we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with juvenile myelomonocytic leukemia, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1 PMID: 26980750
5. Patients with SETBP1 hotspot mutations suffered from aggressive disease with rapid evolution and inferior overall survival. Patients with SETBP1 non-hotspot mutations had less aggressive disease and a more favorable prognosis. PMID: 28913558
6. SETBP1 mutation is associated with chronic myelomonocytic leukemia. PMID: 28209919
7. Somatic c.2608G > A (p.Gly870Ser) in the SETBP1 gene identified in a patient with Fnaconi anemia. PMID: 28419882
8. Current evidence shows that SETBP1 mutation is associated with a poor prognosis in patients with MDS and CMML, but not in patients with chronic neutrophilic leukemia. PMID: 28158286
9. SETBP1 is a major oncogene in myeloid neoplasms, which cooperates with various genetic events and causes distinct phenotypes of myelodysplastic/myeloproliferative neoplasms and secondary acute myeloid leukemia. PMID: 28447248
10. Results indicate a genotype-phenotype correlation in germline SET binding protein 1 (SETBP1) mutations spanning a molecular, cellular and clinical phenotype. PMID: 28346496
11. AML with RUNX1/RUNX1T1 rearrangement displayed c.2903C>T alteration in the mutational hotspot of SETBP1. PMID: 25553291
12. Data describe a new recurrent chromosome translocation, t(12;18)(q14-q15;q12-21), in lipomas and osteochondrolipoma resulting in HMGA2-SETBP1 fusion which suggest a close developmental relationship between the two tumor types. PMID: 26202160
13. we described a patient not fulfilling the clinical criteria and showing mutation in SETBP1, we suggest that the facial gestalt associated with neurological involvement would be sufficient to indicate molecular analysis of this particular gene. PMID: 25663181
14. Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations. PMID: 25716545
15. The SETBP1 and ASXL1 mutations have pathogenetic roles in CSF3R-mutated chronic neutrophilic leukemia. PMID: 25850813
16. SETBP1 mutation might not be involved in the leukemogenisis of acute lymphoblastic leukemia PMID: 24359242
17. SETBP1 mutations are critical drivers of ASXL1-mutated myelodysplastic syndrome. PMID: 25306901
18. mutation analysis of CSF3R, SETBP1 and CALR should be included in the diagnostic criteria for chronic neutrophilic leukemia PMID: 25316523
19. Low frequency of SETBP1 mutations have been found in 106 patients with therapy-related myeloid neoplasms. PMID: 24907359
20. Mutations in SETBP1 are associated with juvenile myelomonocytic leukemia. PMID: 25395418
21. In univariate analysis, survival was adversely affected by ASXL1 (nonsense and frameshift) but not SETBP1 mutations for chronic myelomonocytic leukemia. PMID: 24695057
22. SETBP1 mutations were found in 4.8% of patients with JMML in this study. PMID: 24117422
23. SETBP1 and SRSF2 are the most common somatic genetic abnormalities in patients with myeloid neoplasms carrying isochrmosome 17(q10), and may be important drivers of disease pathogenesis. PMID: 24796269
24. The SETBP1 mutation is associated with poor prognosis in MDS. The mutation can be acquired during the clinical course suggesting it may play a role in disease progression. PMID: 24127063
25. The data suggest that SETBP1 mutations may play a role in myelodysplastic syndromes and chronic myelomonocytic leukaemia disease progression. PMID: 23889083
26. SETBP1 mutation is associated with myelodysplastic syndromes and acute myeloid leukemia. PMID: 23648668
27. SETBP1 mutations are associated with chronic myelomonocytic leukemia. PMID: 23558523
28. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. PMID: 23604229
29. SETBP1 mutations represent an important novel molecular marker, which is highly associated with aCML, the MDS/MPN overlap category and a dysplastic phenotype. PMID: 23628959
30. Mutations of SETBP1 and JAK3 were common recurrent secondary events presumed to be involved in tumor progression and were associated with poor clinical outcomes. PMID: 23832011
31. Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML. PMID: 23832012
32. In MDS and sAML, the rare mutations in SETBP1 might be associated with distinct cytogenetic aberrations involving chromosomes 3 and 7. PMID: 23443343
33. mutated SETBP1 represents a newly discovered oncogene present in Atypical chronic myeloid leukemia (aCML) and closely related diseases. PMID: 23222956
34. We describe a patient with a 18q12.3 microdeletion that causes the disruption of SETBP1 resulting in mild mental retardation and expressive speech impairment with striking discrepancy between expressive and receptive language skills. PMID: 22333924
35. study of 2 unrelated Thai patients with clinical manifestations fulfilling criteria of Schinzel-Giedion syndrome; demonstrate SETBP1 is gene responsible for SGS in Thai patients confirming previous report of this gene associated with SGS in Caucasians PMID: 21371013
36. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. PMID: 21037274
37. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four PMID: 20436468
38. Correction of X-linked chronic granulomatous disease by gene therapy was augmented by insertional activation of SETBP1. PMID: 16582916
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相關疾病：

Schinzel-Giedion midface retraction syndrome (SGMFS); Myelodysplastic syndrome (MDS); Mental retardation, autosomal dominant 29 (MRD29); Leukemia, acute myelogenous (AML); Leukemia, chronic myeloid, atypical (ACML); Leukemia, juvenile myelomonocytic (JMML)
亞細胞定位：

Nucleus.
組織特異性：

Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ cells; expression levels are higher in myeloid malignancies.
數據庫鏈接：

HGNC: 15573

OMIM: 269150

KEGG: hsa:26040

STRING: 9606.ENSP00000282030

UniGene: Hs.435458