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: | RUNX1T1 |
| Gene Name: | RUNX1T1 |
| Protein Full Name: | Protein CBFA2T1 |
| Alias: | AML1T1; CBFA2T1; CDR; Core-binding factor, runt domain, alpha subunit 2;translocated to, 1 (ETO); Cyclin-D-related protein; Eight twenty one protein; ETO; MTG8 |
| Mass (Da): | 67566 |
| Number AA: | 604 |
| UniProt ID: | Q06455 |
| Locus ID: | 862 |
| COSMIC ID: | RUNX1T1 |
| Gene location on chromosome: | 8q22 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 21004 |
| Percent of cancer specimens with mutations: | 1.61 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(8;21)(q22;q22) with AML1 in acute myeloid leukemia |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | RUNX1T1 is a transcription regulator that can bind to histone deacetylases and transcription factors and modulate their functions, often leading to the repression of transcription. A t(8;21)(q22;22) with AML1 is associated with acute myeloid leukemia. It is thought to associate and inhibit the nuclear corepressor/histone deacetylase complex from inducing hematopoietic differentiation. The fusion protein may also be able to repress the p14(ARF) gene promoter which is associated with tumour suppressing activities. |