Affinage

SF3B1

Splicing factor 3B subunit 1 · UniProt O75533

Length
1304 aa
Mass
145.8 kDa
Annotated
2026-06-10
100 papers in source corpus 43 papers cited in narrative 43 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 10/10 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SF3B1 is the largest subunit of the SF3b complex within the U2 snRNP and functions as a scaffold that recruits U2 snRNP to pre-mRNA branch points during spliceosome assembly (PMID:16906767, PMID:21138297). Its intrinsically disordered N-terminal domain presents multiple tryptophan-containing ULM sites that engage the UHM domain of U2AF65 with tunable, lower-than-SF1 affinity consistent with ATP-dependent partner exchange, and this same platform recruits additional UHM-containing splicing factors such as CAPERα (PMID:16376933, PMID:24795046). Through a helical epitope (residues ~401–415) SF3B1 binds the p14/SF3b14 RRM surface, and the p14–SF3B1 module directly recognizes and buries the branch-point adenosine within the U2/branch-site duplex before the first catalytic step (PMID:16495236, PMID:18076038, PMID:21062891). SF3B1 is built around HEAT repeats whose conformation governs branch-site selection fidelity: structure-guided yeast work shows that the branch-point adenosine pocket and the interaction with the ATPase Prp5 set how the U2/branch-site duplex is loaded, and HEAT-repeat substitutions confer pladienolide sensitivity (PMID:28087715, PMID:29752352, PMID:28062854). SF3B1 activity is regulated by phosphorylation cycling—DYRK1A phosphorylates Thr434, CDK11 phosphorylates N-terminal threonines to drive the B-to-Bact spliceosomal transition, and the NIPP1–PP1 complex senses hyperphosphorylated SF3B1 and reverses these marks (PMID:16512921, PMID:36104565, PMID:12105215, PMID:18842582). Beyond core splicing, SF3B1 associates with exonic nucleosomes and couples transcription to splice-site recognition by binding Ser2-phosphorylated RNAPII via CDK12/13 (PMID:25892229, PMID:37026485). SUGP1 binds SF3B1 and supplies the G-patch that activates the DHX15 helicase for branch-point fidelity (PMID:36459648, PMID:37977822). Recurrent cancer hotspot mutations (e.g., K700E, R625H) are change-of-function alleles that weaken the SF3B1–SUGP1 interaction, redirect branch-point usage to generate cryptic 3' splice sites, and impair RNAPII elongation and chromatin accessibility (PMID:26842708, PMID:31474574, PMID:38521065). The resulting mis-splicing drives disease-specific phenotypes: PPP2R5A decay stabilizing MYC and BCL2 (PMID:32188705), coordinated TMEM14C/ABCB7 mis-splicing causing ring sideroblasts (PMID:34861039), MAP3K7 mis-splicing impairing erythropoiesis (PMID:34930825), COASY mis-splicing depleting CoA/succinyl-CoA (PMID:36857430), and IRAK4 exon retention activating NF-κB (PMID:36040792), with mutant SF3B1 also promoting centromeric R-loop accumulation and chromosomal instability (PMID:37463047). A heterozygous K700E knock-in mouse develops macrocytic anemia and erythroid dysplasia modeling SF3B1-mutant myelodysplastic syndrome (PMID:27622333).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1998 Medium

    Established that the SF3B1 ortholog is an essential, conserved nuclear protein, defining the gene as core machinery rather than an accessory factor.

    Evidence Complementation cloning, gene disruption, and GFP localization of fission yeast prp10+

    PMID:9837997

    Open questions at the time
    • Molecular function not assigned beyond essentiality
    • N-terminal dispensability in yeast not connected to human regulatory roles
  2. 2006 High

    Defined how SF3B1 acts as a scaffold by mapping distinct, non-overlapping binding sites for U2AF65 and p14 within its unfolded N-terminal domain, explaining how it nucleates U2 snRNP at the branch point.

    Evidence In vitro binding, CD spectroscopy, NMR, ITC, and mutagenesis of SF3b155 N-terminal ULM and p14-binding regions

    PMID:16376933 PMID:16495236 PMID:16906767

    Open questions at the time
    • Affinity hierarchy among the multiple ULM sites in vivo not resolved
    • How partner exchange is timed during assembly not directly shown
  3. 2010 High

    Resolved the structural basis of branch-point recognition, showing the branch adenosine is buried at the p14/SF3B1-peptide interface and must be released before catalysis.

    Evidence X-ray crystallography of adenine-p14/SF3b155 peptide, disulfide cross-linking, and SAXS

    PMID:18076038 PMID:21062891

    Open questions at the time
    • Trigger for adenosine release before first catalytic step not defined
    • Structure captures peptide, not full-length SF3B1 in spliceosome
  4. 2008 High

    Established SF3B1 as a regulated phosphoprotein by identifying DYRK1A as a Thr434 kinase and the NIPP1–PP1 complex as the sensor/phosphatase that reverses hyperphosphorylation, linking phospho-cycling to splicing.

    Evidence In vitro kinase and phosphatase assays, phosphopeptide mapping, FHA-domain pulldowns, and RNAi across cell lines

    PMID:12105215 PMID:16512921 PMID:18842582

    Open questions at the time
    • Functional consequence of Thr434 phosphorylation on splicing not fully defined
    • Which spliceosomal stage each phospho-mark governs not resolved here
  5. 2011 High

    Identified SF3B1 as the direct molecular target of splicing-inhibitor natural products, validating it as a druggable node and providing tools to probe its function.

    Evidence Photoaffinity labeling with GEX1A derivatives and in vitro splicing assays

    PMID:21138297

    Open questions at the time
    • Binding site on SF3B1 not localized at this stage
    • Mechanism of inhibition beyond SF3b impairment unresolved
  6. 2014 High

    Generalized the scaffold model by showing SF3B1 ULMs recruit additional UHM splicing factors, establishing it as a coordinating platform for multiple regulators.

    Evidence Crystal structure of CAPERα UHM bound to an SF3b155 ULM, ITC, and cell-extract pulldowns

    PMID:24795046

    Open questions at the time
    • In vivo competition among UHM partners not quantified
    • Functional output of CAPERα recruitment not defined
  7. 2016 High

    Determined that cancer hotspot mutations are change-of-function alleles that redirect branch-point usage to create cryptic 3' splice sites, distinguishing the mechanism from simple loss of function.

    Evidence RNA-seq of cancer cell lines and tumors, isogenic comparisons, branchpoint mutagenesis, and knockdown/overexpression controls

    PMID:26565915 PMID:26842708

    Open questions at the time
    • Why specific branch points are selected not explained at this stage
    • Molecular partner whose loss causes the shift unidentified
  8. 2017 High

    Used yeast genetics to mechanistically connect SF3B1 HEAT-repeat conformation to branch-site selection fidelity through its interaction with the ATPase Prp5.

    Evidence Yeast Hsh155 epistasis, in vitro Hsh155–Prp5 binding, single-molecule assembly imaging, and splicing of nonconsensus branch-site substrates

    PMID:28062854 PMID:28087715 PMID:29752352

    Open questions at the time
    • Direct extrapolation of allele-specific fidelity effects to human disease mutants incomplete
    • Conformational states not visualized structurally
  9. 2019 High

    Identified loss of the SF3B1–SUGP1 interaction as the common molecular defect of disease-causing SF3B1 mutations, since SUGP1 knockdown recapitulates and overexpression rescues mutant splicing errors.

    Evidence Proteomics of WT vs K700E complexes, SUGP1 knockdown/overexpression with RNA-seq across multiple hotspot mutants, plus conserved UHM–ULM structural work

    PMID:31110137 PMID:31474574

    Open questions at the time
    • How SUGP1 mechanistically enforces branch-site choice not yet defined
    • Helicase partner of SUGP1 not identified at this point
  10. 2022 High

    Completed the SUGP1 module by showing it presents a G-patch that activates the DHX15 helicase, and that hotspot mutations indirectly deprive SUGP1 of DHX15.

    Evidence Co-IP, crystal structure of DHX15–SUGP1 G-patch, knockdown, and a DHX15–SUGP1 fusion that rescues mutant splicing; structural modeling of the SF3B1–SUGP1 interface

    PMID:36459648 PMID:37977822

    Open questions at the time
    • In vivo kinetics of helicase activation during assembly not measured
    • GPATCH8 as an opposing G-patch factor only later defined
  11. 2022 High

    Connected SF3B1 to transcription and chromatin, showing CDK11 drives the activating B-to-Bact phosphorylation while CDK12/13 couple SF3B1 to elongating RNAPII at exonic nucleosomes.

    Evidence Co-IP, in vitro kinase assays, CDK11 (OTS964) and CDK12/13 (THZ531) inhibition, ChIP-seq, CLIP-seq, and intron-retention RNA-seq

    PMID:25892229 PMID:36104565 PMID:37026485

    Open questions at the time
    • Hierarchy between transcriptional coupling and core spliceosome recruitment not fully ordered
    • Direct chromatin-binding determinants of SF3B1 not mapped
  12. 2022 High

    Established the disease-relevant downstream targets of mutant SF3B1 mis-splicing, defining the molecular causes of ring sideroblasts, anemia, and oncogenic signaling.

    Evidence iPSC and isogenic models with genetic rescue of TMEM14C/ABCB7, MAP3K7/p38 pathway analysis, PPP2R5A/MYC/BCL2 phosphoprotein and rescue studies, IRAK4 isoform and NF-κB assays, and a K700E knock-in mouse

    PMID:27622333 PMID:32188705 PMID:34861039 PMID:34930825 PMID:36040792

    Open questions at the time
    • Relative contribution of each mis-splicing event to combined phenotype not quantified
    • Why erythroid lineage is selectively vulnerable not fully explained
  13. 2023 High

    Extended the consequences of mutant SF3B1 to metabolism and genome stability, linking COASY mis-splicing to CoA depletion and the K700E allele to centromeric R-loops and aneuploidy.

    Evidence COASY splice-variant and metabolite analysis with vitamin B5 rescue in patient cells; DRIP, chromosome segregation imaging, and isoform rescue in isogenic lines

    PMID:36857430 PMID:37463047

    Open questions at the time
    • Whether metabolic and genomic phenotypes are independent or sequential not resolved
    • Identity of all R-loop-processing transcripts mis-spliced not complete
  14. 2024 High

    Showed that mutant SF3B1 impairs RNAPII elongation and reduces promoter chromatin accessibility, and identified GPATCH8 as a DHX15-binding factor required for mutant mis-splicing, nominating reversible nodes for intervention.

    Evidence RNAPII/H3K4me3 ChIP-seq, ATAC-seq, epigenetic inhibitor screen across isogenic cells, patients and mouse; synthetic intron screen, Co-IP, and GPATCH8 knockdown rescue across model systems

    PMID:38521065 PMID:38688280

    Open questions at the time
    • How GPATCH8 and SUGP1 are balanced at branch points mechanistically unresolved
    • Causal order between elongation defect and chromatin changes not fully established

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SF3B1 protein abundance, post-translational modification, and additional helicase partners (e.g., DDX42/DDX46) are integrated to determine branch-point fidelity and disease progression remains incompletely defined.
  • DDX42/DDX46 interactions characterized only by Co-IP and overexpression rescue without structural detail
  • Stress-induced SF3B1 sequestration and m6A/ALKBH5 translational control not mechanistically linked to splice-site fidelity in humans
  • Quantitative rules predicting which introns are mis-spliced by a given mutant remain unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0003723 RNA binding 3 GO:0140098 catalytic activity, acting on RNA 3
Localization
GO:0005654 nucleoplasm 2 GO:0000228 nuclear chromosome 1 GO:0005634 nucleus 1
Pathway
R-HSA-1643685 Disease 4 R-HSA-8953854 Metabolism of RNA 4 R-HSA-74160 Gene expression (Transcription) 3
Complex memberships
SF3b complexU2 snRNPspliceosome

Evidence

Reading pass · 43 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2011 GEX1A (Herboxidiene) directly targets SAP155 (SF3B1) protein, a subunit of SF3b responsible for pre-mRNA splicing, as identified by photoaffinity-labeling derivatives. GEX1A inhibits pre-mRNA splicing by binding to SAP155/SF3B1, thereby impairing SF3b function. Photoaffinity labeling with GEX1A derivatives, in vitro splicing assays, Western blot ACS chemical biology High 21138297
2006 SF3B1 (SAP155/SF3b155) N-terminal domain contains multiple U2AF65 binding sites that are distinct from the p14 binding site (mapped to residues 396–424). The N-terminal domain adopts a primarily unfolded structure functioning as a scaffold for multiple protein–protein and protein–RNA interactions required for U2 snRNP recruitment to the branch point during splicing. In vitro binding assays, RNA binding studies, inhibition of splicing in vitro, circular dichroism spectroscopy Biochemistry High 16906767
2006 DYRK1A phosphorylates SF3B1 (SAP155) at Thr434 in vitro and in cultured cells; overexpression of DYRK1A increases Thr434 phosphorylation of endogenous SF3B1, while DYRK1A knockdown reduces it. Cyclin E/CDK2 phosphorylates SF3B1 at different sites, producing a completely different phosphopeptide pattern. In vitro kinase assay, phosphopeptide mapping, mass spectrometry, mutational analysis, co-expression/knockdown in COS-7 and HEK293 cells, Western blot with phospho-specific antibody BMC biochemistry High 16512921
2006 SF3B1 (SAP155) binds via its RRM-like domain to the ceramide-responsive RNA cis-element 1 (CRCE1) of Bcl-x pre-mRNA. SAP155 knockdown shifts splicing toward the pro-apoptotic Bcl-x(s) isoform and is required for ceramide-induced activation of the Bcl-x(s) 5' splice site, sensitizing cells to chemotherapeutic agents. Mass spectrometry identification, EMSA supershift with anti-SAP155 antibody, RNA interference (RNAi) knockdown, RT-PCR for splice variant quantification, apoptosis assays FASEB journal High 16790528
2006 SF3B155 binds to the β-sheet surface of p14 (SF3b14) through a helical peptide (residues 401–415 form the core epitope), occupying the canonical RNA-binding surface of the p14 RRM. SF3B155 simultaneously binds p14 and U2AF65 through non-overlapping regions, potentially stabilizing U2 snRNP association with pre-mRNA. The p14–SF3B155 complex modulates RNA-binding specificity for the branch point. NMR spectroscopy, biochemical binding assays, mutagenesis RNA High 16495236
2005 SF3b155 contains five functional tryptophan-containing U2AF65-binding sites in its N-terminal domain, each recognized by the U2AF65 UHM domain via a mechanism similar to SF1 but with lower affinity (3.3 kcal/mol less stable than the SF1/U2AF65 complex), consistent with ATP-dependent exchange of these partners during pre-mRNA splicing. Intrinsic tryptophan fluorescence spectroscopy, isothermal titration calorimetry, circular dichroism, mutagenesis of SF3b155 variants Journal of molecular biology High 16376933
2002 The FHA domain of NIPP1 interacts in vitro and in vivo with the TP dipeptide-rich region of SF3B1 (SAP155) in a phosphorylation-dependent manner; phosphorylated TP motifs in SAP155 compete for binding to the same NIPP1 FHA site. SAP155 kinases in cell lysates are blocked by EGTA and roscovitine (CDK inhibitor). SAP155 phosphorylation is dramatically increased during mitosis. GST pulldown, co-immunoprecipitation, phosphopeptide competition, kinase inhibition in cell lysates, mutagenesis The Journal of biological chemistry High 12105215
2008 NIPP1 recruits PP1 to Sap155 (SF3B1) and promotes Sap155 dephosphorylation; NIPP1 stimulates Sap155 dephosphorylation by PP1 in vitro by facilitating their interaction. NIPP1 acts as a molecular sensor that recognizes hyperphosphorylated Sap155 through its FHA domain and dissociates after dephosphorylation, linking phosphorylation cycling of Sap155 to splicing regulation. Co-immunoprecipitation, in vitro phosphatase assays, siRNA knockdown of NIPP1, overexpression of truncated NIPP1 mutants, splicing assays The Journal of biological chemistry High 18842582
2008 The p14–SF3b155 complex has two independent RNA-binding sites: a positively charged groove (requiring Tyr28 and Arg85 of p14) and the C-terminal extension of p14. SF3b155 residues Phe408, Tyr412, Val414, and Leu415 are critical contact points for complex formation with p14. NMR chemical shift perturbation, mutagenesis, in vitro binding assays Proteins High 18076038
2010 p14 (SF3b14) specifically recognizes the branch adenosine within the bulged U2/branch-point duplex, with the branch nucleotide buried at the p14/SF3b155-peptide interface; this interaction must be disrupted before the first catalytic step of splicing. X-ray crystallography (adenine-p14/SF3b155 peptide complex), disulfide cross-linking of protein-RNA complexes, small-angle X-ray scattering (SAXS) RNA High 21062891
2015 SF3B1 is strongly associated with nucleosomes at exonic positions in chromatin; disruption of this SF3B1–nucleosome association impairs splicing of short exons flanked by long introns. Co-IP and sedimentation analyses demonstrate SF3B1 physically associates with nucleosomal components, and ChIP-seq shows preferential binding at exonic nucleosomes with differential GC content. Co-immunoprecipitation, proteomic analysis, sedimentation analysis, ChIP-seq, RNA-seq, SF3B1–nucleosome binding disruption experiments Cell reports High 25892229
2015 Cancer-associated SF3B1 hotspot mutations induce aberrant 3' splice site selection by utilizing a different (upstream) branch point sequence (BPS) compared to wild-type SF3B1. The mutant BPS requires the canonical 3' splice site to enable aberrant splicing during the second step. Approximately 50% of aberrantly spliced mRNAs are degraded by nonsense-mediated decay. RNA-seq analysis of cancer cell lines and patient samples, mutagenesis of predicted branchpoints, NMD inhibition experiments, isogenic cell line comparisons Cell reports High 26565915
2016 SF3B1 R625/K666 cancer mutations act as change-of-function (not loss-of-function) mutants that promote alternative branchpoint usage, leading to aberrant 3' splice site selection; wild-type SF3B1 knockdown or overexpression does not reproduce the mutant splicing pattern. Mutagenesis of predicted branchpoints confirms that the mutant-specific splicing depends directly on alternative branchpoint utilization. RNA-seq of uveal melanoma, isogenic SF3B1-WT and mutant cell lines, SF3B1 knockdown/overexpression, branchpoint mutagenesis Nature communications High 26842708
2016 SF3B1 inhibitors (three structurally distinct compounds) all interact with the same site on SF3B1 and interfere with splicing at multiple stages including both early spliceosome assembly and late exon ligation. Inactive analogs of each compound interchangeably compete with active inhibitors to restore splicing, supporting a shared pharmacophore model in which inhibition results not from binding alone but from inducing a conformational change in SF3B1. In vitro splicing assays, competition experiments with active and inactive inhibitor analogs, analysis at defined spliceosome assembly stages RNA High 26742993
2016 SF3B1 HEAT-repeat mutations (yeast Hsh155 counterparts of human cancer mutations) directly alter the physical interaction between Hsh155 and the spliceosomal ATPase Prp5; this altered interaction changes the fidelity of branch-site (BS)–U2 duplex loading into the SF3B complex during prespliceosome formation, resulting in altered BS selectivity and splicing of suboptimal BS substrates. Yeast genetic analysis, in vitro direct binding assays (Hsh155–Prp5 interaction), splicing assays with nonconsensus BS pre-mRNAs, epistasis analysis of Hsh155 and Prp5 mutations Genes & development High 28087715
2016 Sf3b1(K700E) knock-in mice develop macrocytic anemia due to terminal erythroid maturation defect and erythroid dysplasia; Sf3b1(K700E) myeloid progenitors show aberrant 3' splice-site selection associated with increased nonsense-mediated decay. Tet2 loss cooperates with Sf3b1(K700E) to worsen erythroid and LT-HSC phenotypes. Conditional knock-in mouse model, RNA-seq (aberrant splice site analysis), NMD pathway analysis, genetic epistasis (Sf3b1(K700E) × Tet2 loss), hematopoietic phenotyping Cancer cell High 27622333
2017 SF3b1/Hsh155 mutations alter branchsite selection fidelity in yeast, changing how the spliceosome recognizes nonconsensus nucleotides at positions -2, -1, and +1 relative to the branchpoint adenosine. Different HSH155 alleles have disparate effects: some increase and others decrease fidelity of BS selection. The data support a model in which SF3B1 conformational changes promote U2 snRNA association with the BS to drive spliceosome assembly, acting independently of Prp5 ATPase in some contexts. Yeast genetic analysis, in vitro splicing assays with nonconsensus BS substrates, single-molecule fluorescence microscopy of spliceosome assembly Nucleic acids research High 28062854
2019 Disease-causing SF3B1 hotspot mutations (K700E and others) reduce the level of SUGP1 in mutant spliceosomes. SUGP1 knockdown completely recapitulates SF3B1-mutant splicing errors. SUGP1 overexpression partially rescues aberrant splicing by driving SUGP1 back into mutant spliceosomes. SUGP1 plays an important role in branchsite recognition; loss of SF3B1–SUGP1 interaction is the common molecular defect of disease-causing SF3B1 mutations. Purification of wild-type and K700E mutant SF3B1 complexes followed by proteomics, SUGP1 knockdown and overexpression with RNA-seq, analysis across multiple SF3B1 hotspot mutants Molecular cell High 31474574
2019 Cus2 (yeast) contains a UHM that binds Hsh155 (yeast SF3b1) through a conserved ULM, enforcing the first ATP-dependent step of pre-spliceosome formation. Disruption of this UHM–ULM interaction allows pre-spliceosome formation without ATP. Crystal structure of the human Tat-SF1 (Cus2 homolog) UHM bound to an Hsh155 ULM at 2.0 Å confirms the interaction is conserved between yeast and humans. Crystal structure determination (2.0 Å), mutagenesis of UHM/ULM motifs, yeast splicing extract complementation assays, in vitro binding assays RNA High 31110137
2018 Conserved amino acids in SF3B1 (Hsh155) that contact the U2 snRNA backbone in the U2/branch-site duplex are nonessential; however, mutations in the branch-point adenosine-housing pocket, while viable, cause defects in splicing pre-mRNAs with nonconsensus BS sequences. Human SF3B1 HEAT repeats substituted into yeast Hsh155 chimeras confer pladienolide B sensitivity to yeast splicing and alter BS usage. Mutational analysis of yeast Hsh155 guided by spliceosome cryo-EM structures, in vitro splicing assays, yeast-human chimeric protein analysis, pladienolide B inhibition assays RNA High 29752352
2019 In SF3B1-mutated MDS, mutant SF3B1 generates an alternative ERFE (erythroferrone) transcript in erythroblasts encoding a variant protein that retains capacity to suppress hepcidin transcription, leading to elevated plasma ERFE and iron overload in SF3B1-mutant MDS patients. RNA-seq identification of alternative ERFE transcript, induction in primary SF3B1-mutated erythroblasts, hepcidin suppression assays, plasma ERFE measurement Science translational medicine High 31292266
2020 SF3B1 hotspot mutations promote decay of PPP2R5A (PP2A subunit) transcripts via aberrant splicing, increasing MYC S62 and BCL2 S70 phosphorylation, which stabilizes MYC protein and impairs apoptosis. Genetic PPP2R5A restoration or pharmacological PP2A activation impaired SF3B1-mutant tumorigenesis. RNA-seq across 98 tumors and 12 isogenic cell lines, regulatory network analysis, phosphoprotein analysis, genetic rescue (PPP2R5A restoration), pharmacological PP2A activation in mouse xenograft models Cancer discovery High 32188705
2014 CAPERα (a UHM-containing alternative splicing factor) interacts with SF3b155 through a UHM/ULM interaction; crystal structure of the CAPERα UHM bound to a representative SF3b155 ULM at 1.7 Å resolution establishes SF3b155 as the relevant ULM-containing partner of CAPERα in human cell extracts. SF3b155 serves as a platform for coordinated recruitment of multiple UHM-containing splicing factors. X-ray crystallography (1.7 Å), isothermal titration calorimetry, pulldown from human cell extracts The Journal of biological chemistry High 24795046
2022 CDK11 associates with SF3B1 and phosphorylates threonine residues at its N-terminus during spliceosome activation. This phosphorylation is important for SF3B1 association with U5 and U6 snRNAs in the activated (Bact) spliceosome. Inhibition of CDK11 with OTS964 prevents spliceosomal transition from precatalytic complex B to activated complex Bact, causing widespread intron retention. Co-immunoprecipitation (CDK11–SF3B1 association), in vitro kinase assays, OTS964 CDK11 inhibitor treatment, spliceosome complex analysis (B vs Bact), RNA-seq for intron retention, CLIP-seq for snRNA association Nature High 36104565
2022 Coordinated missplicing of TMEM14C and ABCB7 by mutant SF3B1 (K700E) sequesters iron in mitochondria causing ring sideroblast (RS) formation in MDS. Functional rescue of both TMEM14C and ABCB7 expression nearly abolished RS formation in iPSC-derived erythroid cells, while rescue of PPOX alone had no effect. iPSC model of SF3B1-mutant MDS with in vitro erythroid differentiation, RNA-seq, functional rescue of TMEM14C and ABCB7, ring sideroblast quantification Blood High 34861039
2022 SF3B1 K700E mutation induces mis-splicing of MAP3K7, leading to inactivation of the MAP3K7–p38 MAPK pathway, premature downregulation of GATA1, and accelerated erythroid differentiation followed by apoptosis, causing the anemia characteristic of SF3B1-mutant MDS. Isogenic SF3B1-WT and mutant cell lines, normal human CD34+ cells, MDS patient cells; p38 MAPK activity assays, GATA1 expression analysis, erythroid differentiation assays PNAS High 34930825
2022 CDK12/13 promote the interaction of SF3B1 with Ser2-phosphorylated RNA polymerase II (RNAPII), facilitating SF3B1 association with chromatin and recruitment to 3' splice sites of promoter-proximal introns. CDK12/13 inhibition disrupts the SF3B1–RNAPII interaction and causes selective retention of promoter-proximal introns with weak 3' splice sites. Co-IP of SF3B1 with Ser2-phospho-RNAPII, CDK12/13 inhibitor (THZ531) treatment, ChIP-seq for SF3B1 chromatin association, nascent transcript analysis, RNA-seq for intron retention Nucleic acids research High 37026485
2022 DHX15 is the RNA helicase required for SUGP1 function in branchpoint recognition. Cancer-causing SF3B1 mutations disrupt the SF3B1–SUGP1 interaction, indirectly depriving SUGP1 of its helicase partner DHX15. Crystal structure of DHX15–SUGP1 G-patch complex reveals the molecular basis of their direct interaction. A DHX15–SUGP1 G-patch fusion protein rescues splicing defects of mutant SF3B1. Protein-protein interaction assays (Co-IP, pulldown), crystal structure of DHX15–SUGP1 G-patch complex, RNA-seq, knockdown/overexpression of DHX15, DHX15–SUGP1 fusion rescue experiments PNAS High 36459648
2023 Structural modeling and experimental validation show that two regions flanking the SUGP1 G-patch make numerous contacts with the SF3B1 region harboring cancer hotspot mutations. All cancer-associated mutations in these interface regions weaken or disrupt SF3B1–SUGP1 interaction and alter splicing. Structural modeling reveals that the SF3B1–SUGP1 interaction 'loops out' the G-patch for interaction with DHX15. Structural modeling (AlphaFold-based), mutagenesis of SF3B1–SUGP1 interface residues, Co-IP, RNA-seq for splicing analysis Genes & development High 37977822
2022 SF3B1 K700E mutation promotes centromeric R-loop (cen-R-loop) accumulation, leading to increased chromosome oscillation, impaired chromosome segregation, altered spindle architecture, and aneuploidy. Aberrant splicing of genes involved in R-loop processing underlies cen-R-loop augmentation; overexpression of the normal (not mis-spliced) isoform mitigated mitotic stress. ATM deletion exaggerates these phenotypes. R-loop detection (DRIP), chromosome segregation analysis, spindle architecture imaging, isogenic cell lines with SF3B1 mutation, genetic epistasis with ATM deletion, isoform rescue experiments The Journal of clinical investigation High 37463047
2023 Mis-splicing of COASY (coenzyme A synthase) by mutant SF3B1 depletes both CoA and succinyl-CoA in erythroblasts, impairing heme biosynthesis and erythropoiesis. Supplementation with vitamin B5 (COASY substrate) rescued CoA/succinyl-CoA concentrations in SF3B1-mutant cells and rescued erythropoiesis differentiation in primary MDS-RS patient cells. Splice variant analysis of COASY in patient samples, COASY silencing in erythroid cultures, CoA/succinyl-CoA metabolite measurement, vitamin B5 supplementation in isogenic cells and primary patient cells Science translational medicine High 36857430
2024 Cancer-associated SF3B1 mutations reduce RNA polymerase II (RNAPII) elongation rate along gene bodies and decrease RNAPII density at promoters. The elongation defect results from disrupted pre-spliceosome assembly due to impaired protein–protein interactions of mutant SF3B1. Decreased promoter-proximal RNAPII density reduces chromatin accessibility and H3K4me3 at promoters. Sin3/HDAC/H3K4me pathway modulation reverses both transcription and chromatin changes. RNAPII ChIP-seq, chromatin accessibility (ATAC-seq), H3K4me3 ChIP-seq, isogenic cell lines, patient samples, mutant mouse model, unbiased epigenetic inhibitor screen Molecular cell High 38521065
2024 GPATCH8 is required for mutant SF3B1-induced aberrant splicing activity. GPATCH8 interacts with the RNA helicase DHX15 and functionally opposes SUGP1 in branchpoint quality control. GPATCH8 silencing corrected approximately one-third of mutant SF3B1-dependent splicing defects and improved dysfunctional hematopoiesis in SF3B1-mutant mice and primary human progenitors. Synthetic intron screen to identify trans factors, Co-IP (GPATCH8–DHX15 interaction), GPATCH8 knockdown in isogenic cell lines and SF3B1-mutant mice, RNA-seq for splicing correction, hematopoiesis assays Molecular cell High 38688280
2017 Upon genotoxic (alkylation) stress, Hsh155 (yeast SF3B1) disassembles from its spliceosomal partners and localizes to intranuclear and cytoplasmic protein quality control aggregates. This sequestration is regulated by molecular chaperones and requires TORC1 signaling through Sfp1 transcription factor, and is associated with intron retention in ribosomal protein gene transcripts and decreased splicing efficiency during stress recovery. Cytological screen, live cell imaging, genetic analysis (chaperone mutants, TORC1/Sfp1 pathway), RNA-seq for intron retention, stress recovery assays The Journal of cell biology Medium 28978642
2022 Cancer-associated SF3B1 mutations disrupt the interaction between SF3B1 and DDX42 (and DDX46). Overexpression of DDX42 suppresses some SF3B1-mutation-associated aberrant splicing, and this suppression requires DDX42 ATP hydrolysis activity. Co-immunoprecipitation of WT and K700E SF3B1 complexes, DDX42 overexpression with RNA-seq for splicing correction, ATPase-dead DDX42 mutant analysis Journal of biochemistry Medium 35652295
2013 SAP155 (SF3B1) physically interacts with FIR/FIRΔexon2 (a PUF60 splicing variant), forming a complex that bridges c-Myc transcription and P27 (CDKN1B) expression. SAP155/FIR/FIRΔexon2 knockdown reduces p27 expression and inhibits P27 pre-mRNA splicing, reducing CDK2/Cyclin E expression. Co-immunoprecipitation (SAP155–FIR/FIRΔexon2 complex), siRNA knockdown of SAP155/FIR, RT-PCR for P27 splicing, Western blot for CDK2/Cyclin E Molecular cancer research Medium 23594796
2022 SF3B1 mutations lead to aberrant retention of full-length exon 6 of IRAK4, producing a longer IRAK4 isoform (IRAK4-long) containing the full death and kinase domains that maximally activates NF-κB. IRAK4-long expression in SF3B1-mutant cells induces TRAF6 activation and K63-linked ubiquitination of CDK2, causing a block in hematopoietic differentiation. IRAK4 inhibition with CA-4948 reduces NF-κB activation and improves myeloid differentiation. RNA-seq splicing analysis of SF3B1-mutant MDS samples, IRAK4 isoform functional assays, TRAF6/CDK2 ubiquitination assays, IRAK4 inhibitor in vitro differentiation and xenograft models eLife Medium 36040792
2021 SF3B1 protein is stabilized via deubiquitination (post-translational stabilization of the U2 complex component SF3B1). SF3B1 inhibition blocks T-ALL growth in vivo, perturbs exon skipping leading to NMD-mediated reduction of CHEK2 transcripts, and impairs DNA damage response. SF3B1 inhibition also leads to a general decrease in R-loop formation. In vivo T-ALL mouse model with SF3B1 inhibitor treatment, deubiquitination assays for SF3B1 stability, RNA-seq for exon skipping/NMD analysis, CHEK2 protein/transcript analysis, R-loop detection Science advances Medium 35061527
2023 ALKBH5-driven 5' UTR m6A demethylation fine-tunes SF3B1 translation, and SF3B1 protein abundance levels dynamically regulate MDS-to-leukemia progression in vivo. Changes in SF3B1 levels affect splicing of central DNA repair and epigenetic regulators. m6A sequencing, ALKBH5 manipulation in human and murine pre-leukemic MDS cells, SF3B1 translation reporter assays, in vivo MDS-to-leukemia progression monitoring Molecular cell Medium 36944332
2021 SF3B1 physically interacts with HIF1α, facilitating binding of the HIF1 complex to hypoxia response elements (HREs) to activate target gene expression. SF3B1 is a HIF-1 target gene, forming a positive feedback loop. Monoallelic Sf3b1 deletion impedes tumor formation and progression via impaired HIF signaling in a mouse pancreatic cancer model. Co-IP of SF3B1 with HIF1α, chromatin immunoprecipitation (HIF1 complex binding to HREs), Sf3b1 monoallelic deletion in mouse pancreatic cancer model, tumor formation assays Cell reports Medium 36001976
1998 Fission yeast prp10+ (SF3B1 ortholog) is essential for viability and encodes a protein homologous to human SAP155. Prp10p-GFP localizes predominantly to the nuclear DNA region. The N-terminal ~300 amino acids are dispensable for viability, unlike the conserved C-terminal region containing HEAT repeats. Complementation cloning, gene disruption, GFP fusion localization, deletion analysis Nucleic acids research Medium 9837997
2012 SAP155 (SF3B1) knockdown generates FIRΔexon2 and novel FIR splicing variants (Δ3, Δ4) that lack c-Myc transcriptional repression activity; these variants are found in human colorectal cancer tissues, establishing a role for SAP155 in regulation of FIR pre-mRNA splicing and c-Myc transcriptional control. siRNA knockdown of SAP155 in cell lines, RT-PCR identification of FIR splice variants, colorectal cancer tissue analysis Cancer science Low 23113893
2011 SF3B1 inhibitor treatment in HNSCC cells promotes generation of pro-apoptotic MCL1-S splice variant while diminishing anti-apoptotic MCL1-L variant, via SF3B1-dependent splicing regulation of MCL1 pre-mRNA. SF3B1 is also involved in the splicing of HPV16 E6 to produce the non-oncogenic E6* isoform. RT-PCR and Western blot for MCL1 splice variants upon meayamycin B (SF3B1 inhibitor) treatment, apoptosis assays, pharmacological SF3B1 inhibition Scientific reports Low 25139387

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. The New England journal of medicine 895 22150006
2015 Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point. Cell reports 394 26565915
2020 Full-length transcript characterization of SF3B1 mutation in chronic lymphocytic leukemia reveals downregulation of retained introns. Nature communications 376 32188845
2015 SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood 349 25957392
2016 Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage. Nature communications 333 26842708
2016 Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation. Cancer cell 330 27622333
2016 Transcriptomic Characterization of SF3B1 Mutation Reveals Its Pleiotropic Effects in Chronic Lymphocytic Leukemia. Cancer cell 184 27818134
2014 SF3B1 mutations constitute a novel therapeutic target in breast cancer. The Journal of pathology 146 25424858
2011 Identification of SAP155 as the target of GEX1A (Herboxidiene), an antitumor natural product. ACS chemical biology 126 21138297
2012 Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms. Blood 118 23160465
2013 SF3B1 mutations in chronic lymphocytic leukemia. Blood 111 23568491
2019 Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1. Molecular cell 104 31474574
2020 Mutations in the RNA Splicing Factor SF3B1 Promote Tumorigenesis through MYC Stabilization. Cancer discovery 100 32188705
2015 SF3B1 association with chromatin determines splicing outcomes. Cell reports 92 25892229
2017 SF3B1 and BAP1 mutations in blue nevus-like melanoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 85 28409567
2006 The protein kinase DYRK1A phosphorylates the splicing factor SF3b1/SAP155 at Thr434, a novel in vivo phosphorylation site. BMC biochemistry 83 16512921
2020 The biological function and clinical significance of SF3B1 mutations in cancer. Biomarker research 80 32905346
2022 Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome. Blood 79 34861039
2006 SAP155 Binds to ceramide-responsive RNA cis-element 1 and regulates the alternative 5' splice site selection of Bcl-x pre-mRNA. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 77 16790528
2014 The impact of SF3B1 mutations in CLL on the DNA-damage response. Leukemia 76 25371178
2019 A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome. Science translational medicine 72 31292266
2016 SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing. Genes & development 72 28087715
2022 CDK11 regulates pre-mRNA splicing by phosphorylation of SF3B1. Nature 71 36104565
2016 Interchangeable SF3B1 inhibitors interfere with pre-mRNA splicing at multiple stages. RNA (New York, N.Y.) 71 26742993
2022 Activation of targetable inflammatory immune signaling is seen in myelodysplastic syndromes with SF3B1 mutations. eLife 70 36040792
2006 Biochemical and NMR analyses of an SF3b155-p14-U2AF-RNA interaction network involved in branch point definition during pre-mRNA splicing. RNA (New York, N.Y.) 70 16495236
2020 Somatic SF3B1 hotspot mutation in prolactinomas. Nature communications 68 32427851
2017 SF3b1 mutations associated with myelodysplastic syndromes alter the fidelity of branchsite selection in yeast. Nucleic acids research 68 28062854
2020 Splicing factor SF3B1 is overexpressed and implicated in the aggressiveness and survival of hepatocellular carcinoma. Cancer letters 67 33038489
2017 SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells. Blood 66 28634182
2002 Phosphorylation-dependent interaction between the splicing factors SAP155 and NIPP1. The Journal of biological chemistry 63 12105215
2005 Multiple U2AF65 binding sites within SF3b155: thermodynamic and spectroscopic characterization of protein-protein interactions among pre-mRNA splicing factors. Journal of molecular biology 61 16376933
2022 SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes. Proceedings of the National Academy of Sciences of the United States of America 57 34930825
2020 Splicing factor SF3B1 promotes endometrial cancer progression via regulating KSR2 RNA maturation. Cell death & disease 57 33040078
2014 Cancer-relevant splicing factor CAPERα engages the essential splicing factor SF3b155 in a specific ternary complex. The Journal of biological chemistry 55 24795046
2019 Hotspot SF3B1 mutations induce metabolic reprogramming and vulnerability to serine deprivation. The Journal of clinical investigation 50 31393856
2008 Nuclear inhibitor of protein phosphatase-1 (NIPP1) directs protein phosphatase-1 (PP1) to dephosphorylate the U2 small nuclear ribonucleoprotein particle (snRNP) component, spliceosome-associated protein 155 (Sap155). The Journal of biological chemistry 48 18842582
2021 Nonsense-Mediated RNA Decay Is a Unique Vulnerability of Cancer Cells Harboring SF3B1 or U2AF1 Mutations. Cancer research 46 34215620
2022 DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer. Proceedings of the National Academy of Sciences of the United States of America 44 36459648
2022 Cancer-Associated SF3B1 Mutations Confer a BRCA-Like Cellular Phenotype and Synthetic Lethality to PARP Inhibitors. Cancer research 41 35027467
2006 The SF3b155 N-terminal domain is a scaffold important for splicing. Biochemistry 40 16906767
2020 Pan-cancer analysis identifies mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation. Proceedings of the National Academy of Sciences of the United States of America 39 32332164
2024 GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies. Molecular cell 37 38688280
2023 SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response. Nature genetics 37 37524790
2014 Regulation of HPV16 E6 and MCL1 by SF3B1 inhibitor in head and neck cancer cells. Scientific reports 36 25139387
2022 SF3B1 inhibition disrupts malignancy and prolongs survival in glioblastoma patients through BCL2L1 splicing and mTOR/ß-catenin pathways imbalances. Journal of experimental & clinical cancer research : CR 34 35086552
2021 Mutant SF3B1 promotes AKT- and NF-κB-driven mammary tumorigenesis. The Journal of clinical investigation 34 33031100
2024 SF3B1 mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia. Science advances 32 38517966
2024 Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape. Molecular cell 31 38521065
2022 SF3B1 homeostasis is critical for survival and therapeutic response in T cell leukemia. Science advances 31 35061527
1998 The fission yeast prp10(+) gene involved in pre-mRNA splicing encodes a homologue of highly conserved splicing factor, SAP155. Nucleic acids research 31 9837997
2023 Inhibition of SF3B1 improves the immune microenvironment through pyroptosis and synergizes with αPDL1 in ovarian cancer. Cell death & disease 30 38012150
2018 Functional analysis of Hsh155/SF3b1 interactions with the U2 snRNA/branch site duplex. RNA (New York, N.Y.) 29 29752352
2023 Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in SF3B1-mutated myelodysplasia. Science translational medicine 27 36857430
2023 m6A-driven SF3B1 translation control steers splicing to direct genome integrity and leukemogenesis. Molecular cell 27 36944332
2023 CDK12/13 promote splicing of proximal introns by enhancing the interaction between RNA polymerase II and the splicing factor SF3B1. Nucleic acids research 27 37026485
2023 SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation. The Journal of clinical investigation 27 37463047
2019 Cus2 enforces the first ATP-dependent step of splicing by binding to yeast SF3b1 through a UHM-ULM interaction. RNA (New York, N.Y.) 27 31110137
2023 SF3B1 mutations in myelodysplastic syndromes: A potential therapeutic target for modulating the entire disease process. Frontiers in oncology 25 37007111
2012 SAP155-mediated c-myc suppressor far-upstream element-binding protein-interacting repressor splicing variants are activated in colon cancer tissues. Cancer science 25 23113893
2022 The SF3B1R625H mutation promotes prolactinoma tumor progression through aberrant splicing of DLG1. Journal of experimental & clinical cancer research : CR 24 35039052
2019 Structures of SF3b1 reveal a dynamic Achilles heel of spliceosome assembly: Implications for cancer-associated abnormalities and drug discovery. Biochimica et biophysica acta. Gene regulatory mechanisms 24 31707043
2023 Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. European journal of endocrinology 23 37721395
2021 Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence. Molecular oncology 23 34706158
2021 SF3B1 mutation in pancreatic cancer contributes to aerobic glycolysis and tumor growth through a PP2A-c-Myc axis. Molecular oncology 21 33932092
2016 Spliceosomal component Sf3b1 is essential for hematopoietic differentiation in zebrafish. Experimental hematology 21 27260753
2013 Interactions between SAP155 and FUSE-binding protein-interacting repressor bridges c-Myc and P27Kip1 expression. Molecular cancer research : MCR 21 23594796
2023 Characterization of the SF3B1-SUGP1 interface reveals how numerous cancer mutations cause mRNA missplicing. Genes & development 20 37977822
2022 Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome. Scientific reports 20 36028755
2022 SF3B1 Mutations in Hematological Malignancies. Cancers 20 36230848
2019 The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish. Blood advances 20 31300417
2022 Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma. Cancers 19 35159112
2019 Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia. Journal of clinical pathology 19 31473630
2010 Structural model of the p14/SF3b155 · branch duplex complex. RNA (New York, N.Y.) 19 21062891
2020 Knockdown of SF3B1 inhibits cell proliferation, invasion and migration triggering apoptosis in breast cancer via aberrant splicing. Breast cancer (Tokyo, Japan) 18 31919642
2021 The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer. Frontiers in oncology 17 33585229
2022 Cancer-associated mutations in SF3B1 disrupt the interaction between SF3B1 and DDX42. Journal of biochemistry 16 35652295
2021 SF3B1-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation. Haematologica 16 33121237
2001 Molecular cloning, genetic mapping, and expression of the mouse Sf3b1 (SAP155) gene for the U2 snRNP component of spliceosome. Mammalian genome : official journal of the International Mammalian Genome Society 16 11252167
2023 Expression of circular RNAs in myelodysplastic neoplasms and their association with mutations in the splicing factor gene SF3B1. Molecular oncology 15 37408496
2022 Mutation in SF3B1 gene promotes formation of polyploid giant cells in Leukemia cells. Medical oncology (Northwood, London, England) 15 35478057
2022 Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts. Blood cancer discovery 15 35926182
2020 SF3B1 mutant myelodysplastic syndrome: Recent advances. Advances in biological regulation 15 33358369
2008 Complex assembly mechanism and an RNA-binding mode of the human p14-SF3b155 spliceosomal protein complex identified by NMR solution structure and functional analyses. Proteins 15 18076038
2023 SF3B1 mutation-mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia. Life science alliance 14 37562845
2021 Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract. BMC cancer 14 34102999
2017 Selective aggregation of the splicing factor Hsh155 suppresses splicing upon genotoxic stress. The Journal of cell biology 14 28978642
2024 Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation. Nature communications 13 38589367
2024 Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations. Genome research 13 39271291
2023 Mutant SF3B1 promotes malignancy in PDAC. eLife 13 37823551
2022 Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs. Blood advances 13 35042235
2021 Modulation of SF3B1 in the pre-mRNA spliceosome induces a RIG-I-dependent type I IFN response. The Journal of biological chemistry 13 34619148
2011 The kinase DYRKIA regulates pre-mRNA splicing in spermatogonia and proliferation of spermatogonia and Sertoli cells by phosphorylating a spliceosomal component, SAP155, in postnatal murine testes. Molecular and cellular biochemistry 13 21553260
2007 Mapping of the protein-binding interface between splicing factors SF3b155 and p14 of Trypanosoma cruzi. Biochemical and biophysical research communications 13 17931603
2024 Mis-splicing of Mitotic Regulators Sensitizes SF3B1-Mutated Human HSCs to CHK1 Inhibition. Blood cancer discovery 12 38856693
2022 SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer. Cell reports 12 36001976
2019 SF3B1 mutation predicts unfavorable treatment-free survival in Chinese chronic lymphocytic leukemia patients. Annals of translational medicine 12 31168457
2014 Mutations in chronic lymphocytic leukemia and how they affect therapy choice: focus on NOTCH1, SF3B1, and TP53. Hematology. American Society of Hematology. Education Program 12 25696844
2024 Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts. Cancer research 11 37921711
2019 NOTCH1, SF3B1, MDM2 and MYD88 mutations in patients with chronic lymphocytic leukemia. Oncology letters 11 30930998

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