Splicing factor 3B subunit 1 is a protein that in humans is encoded by the SF3B1 gene. [5][6] This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and U2 spliceosomal RNA, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP).

2020年7月9日 · MDS patients with somatic SF3B1 mutations share a common phenotype, with favorable outcomes and a restricted spectrum of subclonal mutations, independently of their WHO 2017 category. Malcovati et al propose a new MDS subtype characterized by SF3B1 mutations, following the classification criteria depicted in the figure. Abn, abnormalities; BM ...

Increasing evidence that knockdown or exogenous overexpression of SF3B1 mutations regulates tumorigenesis and progression of MDS suggests that SF3B1 represents a potential therapeutic target, and there is an urgent need for appropriate therapeutic strategies.

2024年12月25日 · SF3B1 (Splicing Factor 3b Subunit 1) is a Protein Coding gene. Diseases associated with SF3B1 include Myelodysplastic Syndrome and Chronic Myelogenous Leukemia, Bcr-Abl1 Positive. Among its related pathways are Processing of Capped Intron-Containing Pre-mRNA and RNA Polymerase I Promoter Opening.

SF3B1 is the largest subunit of the spliceosome factor 3b (SF3B) complex, which is a core component of spliceosomes. Recurrent somatic mutations in SF3B1 have been detected in human cancers, including hematological malignancies and solid tumors, and indicated to be related to patient prognosis.

2011年10月13日 · Follow-up revealed SF3B1 mutations in 72 of 354 patients (20%) with myelodysplastic syndromes, with particularly high frequency among patients whose disease was characterized by ring...

2024年11月5日 · The mutations of splicing factor genes (e.g., SF3B1, SRSF2, U2AF1, ZRSR2) are found in approximately 60% of MDS patients and lead to the accumulation of R-loops and associated DNA damage, resulting in the activation of the ATR pathway in affected cells.

2020年7月9日 · Approximately half of MDS patients carry somatic mutations in spliceosome genes, with SF3B1 being the most commonly mutated one. SF3B1 mutation identifies a condition characterized by ring sideroblasts (RS), ineffective erythropoiesis, and indolent clinical course.

2020年7月9日 · SF3B1 mutation identifies a condition characterized by ring sideroblasts (RS), ineffective erythropoiesis, and indolent clinical course. A large body of evidence supports recognition of SF3B1-mutant MDS as a distinct nosologic entity.

2025年2月9日 · The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia. The splicing factor SF3B1 confers ferroptosis resistance and promotes lung adenocarcinoma progression via upregulation of SLC7A11.