Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | RUNX1 |
| Gene Name: | RUNX1 |
| Protein Full Name: | Runt-related transcription factor 1 |
| Alias: | Acute myeloid leukemia 1 protein; Aml1 oncogene; AMLCR1; CBFA2; CBF-alpha 2; Core-binding factor subunit alpha-2; Core-binding factor, alpha 2 subunit; Oncogene AML-1; PEA2-alpha B; PEBP2A2; PEBP2-alpha B; Polyomavirus enhancer binding protein 2 alpha B subunit; Polyomavirus enhancer-binding protein 2 alpha B subunit; RUN1; RUNX1; SL3/AKV core-binding factor alpha B subunit; SL3-3 enhancer factor 1 alpha B subunit |
| Mass (Da): | 48737 |
| Number AA: | 453 |
| UniProt ID: | Q01196 |
| Locus ID: | 861 |
| COSMIC ID: | RUNX1 |
| Gene location on chromosome: | 21q22.12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 28384 |
| Percent of cancer specimens with mutations: | 2.94 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions, and some complex mutations over entire protein length. |
| Mutations observed as inherited: | Familial platelet disorder with predisposition to acute non lymphocytic leukemia |
| Deregulated in translocations: | Translocations t(1;21)(p36;q22); t(2;21)(p11;q22); t(12;21)(q24;q22); t(17;21)(q11;q22); (20;21)(q1;3q22); t(17;21)(q11;q22); t(20;21)(q1;3q22); t(16;21)(q24;q22)--> MTG16-RUNX1; t(8;21)(q22;q22) --> ETO-RUNX1; t(16;21)(q24;q22) --> MTG16-RUNX1; and t(19 |
| Normal role description: | RUNX1 (AML1) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. It is an activator of various hematopoietic-specific genes such as GM-CSF, CSF1R, and myeloid myeloperoxidase. Translocations involving the gene have been associated with various types of leukemia. |
| Commentary on involvement of protein in cancer: | 1 laryngeal sample/25 total UAT samples (mis-sense), 1/100 CNS-, 2/477 lung-, and 1/81 ovarian cancer samples were also mutated |