SF3B1
SF3B1 (Splicing factor 3B subunit 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Myelodysplastic syndromes / neoplasms and 5 more.
Overview
Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA.
CIViC holds 10 clinical evidence items and 0 assertions across 4 variants, naming Spliceostatin A, Olaparib and Etoposide. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.98, genetic association 0.57, somatic mutation 0.95, animal model 0.48). IntOGen calls it a driver in 25 cohorts (24 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Hepatocellular Carcinoma and others.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · SF3B1 (Splicing factor 3B subunit 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Myelodysplastic syndromes / neoplasms and 5 more.
- 1 · What it is
SF3B1 (Splicing factor 3B subunit 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Myelodysplastic syndromes / neoplasms and 5 more.
- 2 · What goes wrong in cancer
Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs.
- 3 · How drugs use it
No product in this corpus aims at SF3B1 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
External identifiers
Sources: HGNC HGNC:10768 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O75533 (protein name, function text, keywords and locations (REST API)); CIViC gene SF3B1 (10 evidence items, 0 assertions, 4 variants; diseases: Chronic Lymphocytic Leukaemia, Myelodysplastic Syndrome, Breast Cancer, Leukaemia (GraphQL API, CC0)); Open Targets ENSG00000115524 (association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.56, melanoma 0.70, acute myeloid leukaemia 0.52, acute lymphoblastic leukaemia 0.74, B-cell chronic lymphocytic leukaemia 0.74, non-Hodgkin lymphoma 0.75 (GraphQL API, CC0)); IntOGen SF3B1 (driver in 25 cohorts (Act 24, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs. Location: Nucleus; Nucleus speckle (UniProt). Locus 2q33.1 (HGNC).
- Leukaemia: Open Targets association 0.81 with leukaemia (MONDO_0005059); CIViC evidence names this disease
- Non-Hodgkin lymphoma: Open Targets association 0.75 with non-Hodgkin lymphoma (MONDO_0018908)
- Myelodysplastic syndromes / neoplasms: Open Targets association 0.66 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease
- Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254); CIViC evidence names this disease
- Pancreatic ductal adenocarcinoma: IntOGen driver in 2 cohorts (PAAD)
- Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 24 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 10 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"SF3B1" OR ABSTRACT:"SF3B1" OR TITLE:"splicing factor 3b subunit 1" OR ABSTRACT:"splicing factor 3b subunit 1" OR TITLE:"Splicing factor 3B subunit 1" OR ABSTRACT:"Splicing factor 3B subunit 1" OR TITLE:"SAP155" OR ABSTRACT:"SAP155" OR TITLE:"SF3b155" OR ABSTRACT:"SF3b155" OR TITLE:"PRPF10" OR ABSTRACT:"PRPF10") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SF3B1, not a curated reading list.
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