SF3B1 Antibody

1. Small but widespread reduction of intron-retaining isoforms is the most frequent splicing alteration in bone marrow samples from myelodysplasia patients. PMID: 30194306
2. PHF5A-SF3B1 forms a central node for binding to splicing modulators PMID: 28541300
3. SF3B1 Mutation is associated with Myelodysplastic Syndrome. PMID: 30049194
4. Prognostic interaction between bone marrow morphology and SF3B1 and ASXL1 mutations in myelodysplastic syndromes with ring sideroblasts. PMID: 29434284
5. SF3B1 mutations were also associated with del(11q), which is prognostically different from inv(3)(q21q26.2) PMID: 29249799
6. Results find that SF3B1 retained intron 4 (i4) harbors cryptic exons that are highly conserved and decoy exon E4e can promote intron retention at heterologous sites. PMID: 29959282
7. Integrated ERK1/ERK2 response to B-cell receptor stimulation and SF3B1 gene mutations refine prognosis in chronic lymphocytic leukemia. PMID: 27927769
8. could confirm the very good prognosis of MDS patients with del(11q) as described in the IPSS-R and identified a very high frequency of SF3B1 mutations, a relatively low ASXL1 and TP53 mutation frequency, as well as a lack of EZH2 mutations as possible molecular reason for this favorable outcome PMID: 28592886
9. SF3B1R625C/H mutations were enriched in non-uveal melanoma compared to other "hotspot" mutations. SF3B1K700E mutations predominated in breast carcinoma (8/11 samples, 73%), similar to myelodysplastic syndrome and chronic lymphocytic leukemia. PMID: 27089234
10. In this report we show that patients with uveal melanoma harbor mutation-specific chromosomal patterns in the tumor. These chromosomal patterns are characterized by different types of chromosomal anomalies, thus illustrating that distinct biological mechanisms underlie uveal melanoma pathogenesis. PMID: 27916271
11. Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. PMID: 28409567
12. Mutation in SF3B1 gene is associated with mucosal melanoma. PMID: 28296713
13. These data provide a catalog of copy-number associated gene dependencies and identify partial copy-loss of wild-type SF3B1 as a novel, non-driver cancer gene dependency. PMID: 28177281
14. although blocking the function of SF3b elicits a massive accumulation of unspliced pre-mRNAs in the nucleus, intron-containing transcripts can still bind the ALYREF export factor and be transported to the cytoplasm, where they trigger an alternative nonsense-mediated decay pathway. PMID: 28302904
15. this study shows that DNMT3A mutations are present in a significant proportion of SF3B1mut patients with RARS and its presence has a clearly negative impact on outcomes, determining a higher RBC transfusion dependency, higher risk of progression to AML, and lower OS. PMID: 27771989
16. Somatic SF3B1 mutations are associated with metastatic NUT midline carcinoma. PMID: 28967088
17. Fanconi anemia FANCD2 and FANCI proteins regulate the nuclear dynamics of splicing factors, such as SF3B1. PMID: 29030393
18. The frequently mutated SF3B1 residues contact the pre-mRNA splice site. Based on structural homology with other spliceosome subunits, and recent findings of altered RNA binding by mutant U2AF1 proteins, we suggest that affected U2AF1 residues also contact pre-mRNA. PMID: 28372848
19. The aberrantly spliced target genes and deregulated cellular pathways associated with the commonly mutated splicing factor genes in myelodysplastic syndromes (SF3B1, SRSF2 and U2AF1) are being identified, illuminating the molecular mechanisms underlying the disease. (Review) PMID: 27639445
20. These findings provide evidence of a multipotent lymphomyeloid Hematopoietic stem cell origin of SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts patients. PMID: 28634182
21. Mutation in SF3B1 gene is associated with Uveal Melanoma. PMID: 28810145
22. Mutation in SF3B1 is associated with myelodysplastic syndrome and chronic lymphocytic leukemia. PMID: 27524419
23. different HSH155 alleles elicit disparate effects on splicing: some increase the fidelity of BS selection while others decrease fidelity. Our data support a model wherein conformational changes in SF3b1 promote U2 association with the BS independently of the action of the DEAD-box ATPase Prp5. We propose that SF3b1 functions to stabilize weak U2/BS duplexes to drive spliceosome assembly and splicing PMID: 28062854
24. mutations of SF3B1 may block erythropoiesis via dysregulation of alternative RNA splicing of transcription factor TAL1 PMID: 28545085
25. Molecular architecture of SF3b and structural consequences of its cancer-related mutations have been described. PMID: 27720643
26. Inhibition of SF3B1 with moderate levels of Pladienolide B, a previously established small molecule inhibitor of SF3B1, affects the transcriptional activation of HSF1, the transcription factor that mediates the heat shock response. PMID: 28445500
27. Our findings demonstrate that, despite significant differences in affected transcripts, there is overlap in the phenotypes associated with SF3B1-K700E between human and mouse. PMID: 27604819
28. Sf3b1(K700E). Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion. PMID: 27622333
29. The blood sample from a patient with lung cancer with a known SF3B1 V701F mutation was also analyzed and this mutation was successfully identified in ptDNA. However, 1 of the patients with a K700E mutation was found to have a mutational burden of 98%. PMID: 28615231
30. data support a model in which cycloheximide -induced downregulation of the iron exporter ABCB7 mRNA transcript resulting from aberrant splicing caused by mutant SF3B1 underlies the increased mitochondrial iron accumulation found in MDS patients with ring sideroblasts PMID: 27211273
31. recent insights into the molecular mechanisms of mis-splicing caused by mutant SF3B1 and the pathogenesis of RSs in the context of congenital sideroblastic anemia as well as anemia with ringed sideroblasts with SF3B1 mutations. PMID: 28466384
32. Patients with uveal melanoma can be classified into 3 groups, of which EIF1AX-mutated tumors and tumors without BAP1, SF3B1, or EIF1AX mutations are associated with prolonged survival and low metastatic risk, SF3B1-mutated tumors are associated with late metastasis PMID: 26923342
33. Results show that SF3B1 mutation was found to dysregulate multiple cellular functions in CLL including DNA damage response, telomere maintenance, and Notch signaling through splicing alterations. PMID: 27818134
34. BAP1, SF3B1, and EIF1AX mutations occur during uveal melanoma tumor progression in an almost mutually exclusive manner and are associated with different levels of metastatic risk. PMID: 27123562
35. Mutations in ASXL1, U2AF1, and SF3B1 are common in Chinese patients with myelodysplastic syndromes. PMID: 26508027
36. The clinical impact of small subclones harboring NOTCH1, SF3B1, or BIRC3 mutations in chronic lymphocytic leukemia patients appears to be less pronounced than that of small TP53 mutated subclones. PMID: 26819056
37. No relationship was observed between IGHV mutational status and SF3B1 mutationfa PMID: 26588928
38. The genotype frequencies of SF3B1 SNP rs788018 were TT 13.2%, TC 39.6%, and CC 47.2% in Childhood AML patients. PMID: 25553291
39. The finding of this study showed that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level. PMID: 26769193
40. SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis. PMID: 26970172
41. studies reveal new mechanistic insight into SF3B1 as a principal player in the spliceosome and as a target of inhibitor compounds PMID: 26742993
42. SF3B1 - novel candidate genes validated in a large case-control sample of schizophrenia. PMID: 26460480
43. In uveal melanoma, the SF3B1(R625/K666) mutation results in deregulated splicing at a subset of junctions, mostly by the use of alternative 3'ss. PMID: 26842708
44. Data show that tet methylcytosine dioxygenase 2 TET2, isocitrate dehydrogenases 1/2 IDH1/IDH2, serine/arginine-rich splicing factor 2 SRSF2, splicing factor 3b subunit 1 SF3B1, and ras proteins (KRAS/NRAS) are not conserved in dog mast Cell tumors. PMID: 26562302
45. SF3B1 mutations can propagate from hematopoietic stem cells to myeloid progeny causing myelodysplastic syndromes. PMID: 26643973
46. Data suggest SF3B1 mutations as a biomarker that can aid in the diagnosis of patients with sideroblastic anemia (SA), allowing for the differentiation between clonal and non-clonal cases of SA. PMID: 25330446
47. SF3B1 is associated with nucleosomes positioned over exons. SF3B1 binding of nucleosomes facilitates the splicing recognition of exons. PMID: 25892229
48. Studying transcriptome sequencing data from chronic lymphocytic leukemia, breast cancer and uveal melanoma tumor samples, we show that hundreds of cryptic 3' splice sites (3'SSs) are used in cancers with SF3B1 mutations. PMID: 25768983
49. SF3B1 mutation identifies a distinct Myelodysplastic syndrome subtype that is unlikely to develop detrimental subclonal mutations and is characterized by indolent clinical course and favorable outcome. PMID: 25957392
50. single mutations in SF3B1 are associated with increased DNA damage and/or an aberrant response to DNA damage PMID: 25371178

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HGNC: 10768

OMIM: 605590

KEGG: hsa:23451

STRING: 9606.ENSP00000335321

UniGene: Hs.632554