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RUNX1 (Runt-related transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.
Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters.
CIViC holds 18 clinical evidence items and 0 assertions across 13 variants, naming Cytarabine. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.44, literature 1.00, genetic association 0.83, somatic mutation 0.94, animal model 0.80). IntOGen calls it a driver in 7 cohorts (1 activating, 6 loss-of-function), covering Adenoid Cystic Carcinoma, Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Invasive Breast Carcinoma, Glioblastoma Multiforme.
In plain words · RUNX1 (Runt-related transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.
RUNX1 (Runt-related transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.
Forms the heterodimeric complex core-binding factor (CBF) with CBFB.
No product in this corpus aims at RUNX1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
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) and a fusion partner (UniProt records a translocation), 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 RUNX1: RNA tissue enhanced (bone marrow 43 nTPM); blood lineage lineage enriched (granulocytes 24 nTPM); high antibody staining in 2 normal tissues. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma, Breast cancer (all types), Salivary gland cancers, Ovarian cancer, Lung cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q01196; CIViC gene RUNX1; IntOGen RUNX1; Human Protein Atlas RUNX1 tissue; Open Targets ENSG00000159216 associations
First described 1991. Earliest sequence paper UniProt cites for the protein: Miyoshi et al, Proc. Natl. Acad. Sci. U.S.A, 1991, "t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1". Source.
Sources: HGNC HGNC:10471 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q01196 (protein name, function text, keywords and locations (REST API)); CIViC gene RUNX1 (18 evidence items, 0 assertions, 13 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Acute Lymphoblastic Leukaemia (GraphQL API, CC0)); Open Targets ENSG00000159216 (association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: ovarian cancer 0.51, acute myeloid leukaemia 0.78, acute lymphoblastic leukaemia 0.61, non-Hodgkin lymphoma 0.63, myeloproliferative neoplasm 0.83, breast cancer 0.55 (GraphQL API, CC0)); IntOGen RUNX1 (driver in 7 cohorts (Act 1, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. Essential for the development of normal haematopoiesis. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter. Inhibits KAT6B-dependent transcriptional activation. Location: Nucleus (UniProt). Locus 21q22.12 (HGNC).
RNA: tissue enhanced (bone marrow 43 nTPM), detected in many normal tissues. Blood: lineage enriched (granulocytes 24 nTPM).
Medium: Appendix, Bone marrow, Breast, Bronchus, Cervix, Duodenum, Fallopian tube, Lung.
No cancer stained high; medium in breast cancer, carcinoid, cervical cancer, colorectal cancer.
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:"RUNX1" OR ABSTRACT:"RUNX1" OR TITLE:"RUNX family transcription factor 1" OR ABSTRACT:"RUNX family transcription factor 1" OR TITLE:"Runt-related transcription factor 1" OR ABSTRACT:"Runt-related transcription factor 1" OR TITLE:"PEBP2A2" OR ABSTRACT:"PEBP2A2" OR TITLE:"AMLCR1" OR ABSTRACT:"AMLCR1" OR TITLE:"AML1" OR ABSTRACT:"AML1") 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 RUNX1, not a curated reading list.
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), Ovarian cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Ovarian cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Ovarian cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Ovarian cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Ovarian cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Ovarian cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Ovarian cancer.