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: | GFI1 |
| Gene Name: | GFI1 |
| Protein Full Name: | Zinc finger protein Gfi-1 |
| Alias: | Growth factor independent 1 transcription repressor; ZNF163 |
| Mass (Da): | 45297 |
| Number AA: | 422 |
| UniProt ID: | Q99684 |
| Locus ID: | 2672 |
| COSMIC ID: | GFI1 |
| Gene location on chromosome: | 1p22.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19706 |
| Percent of cancer specimens with mutations: | 0.36 |
| Normal role description: | GFI1 functions as a transcriptional repressor by being part of a complex with other cofactors that controls histone modifications leading to silencing of the target gene promoter. It is involved in regulation of for example hematopoiesis, oncogenesis and is also required for the integrity and function of inner ear hair cells and in the CNS for Purkinje cells. Mutations of the gene cause autosomal dominant severe congenital neutropenia, a hematopoietic disorder leading to a predisposition to leukemias and infections. GFI1 is over-expressed in a number of malignancies such as prostate cancer, and it is believed that it is involved in development of the disease by repressing the transcription of CYP27B1, an enzyme that normally would synthesize 25-Dihydroxyvitamin D, which has been found to inhibit the growth of prostate cancer cells. |
| Commentary on involvement of protein in cancer: | Only 1 ovarian & 1 oral carcinoma tumour were included in the Sanger COSMIC database |