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U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.
CIViC holds 9 clinical evidence items and 0 assertions across 4 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.93, genetic association 0.00, somatic mutation 0.97, animal model 0.53). IntOGen calls it a driver in 15 cohorts (15 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Cholangiocarcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Pancreatic Adenocarcinoma, Prostate Adenocarcinoma and others.
In plain words · U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.
U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point.
No product in this corpus aims at U2AF1 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); 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 U2AF1: RNA low tissue specificity; high antibody staining in 42 normal tissues; highest cancer staining testis cancer (12 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lung cancer (all types), Pancreatic ductal adenocarcinoma, Prostate cancer, Gastric & gastro-oesophageal junction cancer, Endometrial cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (acute myeloid leukemia, lung adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q01081; CIViC gene U2AF1; IntOGen U2AF1; Human Protein Atlas U2AF1 tissue; Open Targets ENSG00000160201 associations
First described 1992. Earliest sequence paper UniProt cites for the protein: Zhang et al, Proc. Natl. Acad. Sci. U.S.A, 1992, "Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit". Source.
Sources: HGNC HGNC:12453 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q01081 (protein name, function text, keywords and locations (REST API)); CIViC gene U2AF1 (9 evidence items, 0 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)); Open Targets ENSG00000160201 (association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, melanoma 0.52, acute myeloid leukaemia 0.64, skin cancer 0.52, myeloproliferative neoplasm 0.70, lung cancer 0.64 (GraphQL API, CC0)); IntOGen U2AF1 (driver in 15 cohorts (Act 15, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron. Location: Nucleus; Nucleus speckle (UniProt). Locus 21q22.3 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Liver, Prostate, Skeletal muscle.
HPA U2AF1 tissue · HPA U2AF1 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:"U2AF1" OR ABSTRACT:"U2AF1" OR TITLE:"U2 small nuclear RNA auxiliary factor 1" OR ABSTRACT:"U2 small nuclear RNA auxiliary factor 1" OR TITLE:"Splicing factor U2AF 35 kDa subunit" OR ABSTRACT:"Splicing factor U2AF 35 kDa subunit" OR TITLE:"U2AF35" OR ABSTRACT:"U2AF35" OR TITLE:"RNU2AF1" OR ABSTRACT:"RNU2AF1" OR TITLE:"U2AFBP" OR ABSTRACT:"U2AFBP") 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 U2AF1, not a curated reading list.
Shares RNA splicing, Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types).
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), Endometrial cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myelodysplastic syndromes / neoplasms (MDS), Leukaemia (all types), Endometrial cancer, CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, IntOGen.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.