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: | IKZF1 |
| Gene Name: | IKZF1 |
| Protein Full Name: | DNA-binding protein Ikaros |
| Alias: | DNA-binding protein Ikaros; HIk-1; Hs.54452; Ik1; Ikar; Ikaros; IKAROS; IKAROS family zinc finger 1; Ikzf1; Lyf1; LyF-1; Lymphoid transcription factor LyF-1; Zinc finger protein, subfamily 1A, 1 (Ikaros); Znfn1a1 |
| Mass (Da): | 57528 |
| Number AA: | 519 |
| UniProt ID: | Q13422 |
| Locus ID: | 10320 |
| COSMIC ID: | IKZF1 |
| Gene location on chromosome: | 7p12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 23324 |
| Percent of cancer specimens with mutations: | 2.2 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with some mutations, and 2 insertion mutants. |
| Deregulated in translocations: | Translocation t(3;7)(q27;p12) --> BCL6-Ikaros fusion in diffuse large B-cell lymphoma (DLCL) |
| Normal role description: | IKZF1 is a transcription factor belonging to the family of zinc-finger DNA binding proteins associated with chromatin remodelling, expressed only in fetal and adult hemo-lymphopoietic system, where it functions as a regulator of lymphocyte differentiation by repressing transcription through the recruitment of histone deacetylase complexes. Non-DNA-binding isoforms are mainly found in the cytoplasm, and are thought to function as dominant negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies. |