Loading
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.
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.
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.
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.
Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs.
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.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SF3B1: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining renal cancer (7 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Myeloid neoplasms, Breast cancer (all types), Pancreatic ductal adenocarcinoma, Bladder & urothelial cancer, Hepatocellular carcinoma); Open Targets associates it with 5 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, myelodysplastic syndrome, lymphoid leukemia, myeloproliferative disorder, breast adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt O75533; CIViC gene SF3B1; IntOGen SF3B1; Human Protein Atlas SF3B1 tissue; Open Targets ENSG00000115524 associations
First described 1998. Earliest sequence paper UniProt cites for the protein: Wang et al, Genes Dev, 1998, "Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis". Source.
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)
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).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adrenal gland, Appendix, Bronchus, Caudate, Cerebellum, Colon, Duodenum, Endometrium.
Medium only: colorectal cancer, endometrial cancer, head and neck cancer, lung cancer.
HPA SF3B1 tissue · HPA SF3B1 pathology · HPA protein class: Essential proteins
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query 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.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Bladder & urothelial cancer.
Shares RNA splicing, Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Bladder & urothelial cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares RNA splicing, Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.