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: | GFI1B |
| Gene Name: | GFI1B |
| Protein Full Name: | Zinc finger protein Gfi-1b |
| Alias: | Growth factor independent protein 1B;Potential regulator of CDKN1A translocated in CML |
| Mass (Da): | 37492 |
| Number AA: | 330 |
| UniProt ID: | Q5VTD9 |
| Locus ID: | 8328 |
| COSMIC ID: | GFI1B |
| Gene location on chromosome: | 9q34.13 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19689 |
| Percent of cancer specimens with mutations: | 0.39 |
| Mutations observed as inherited: | a T->C promoter mutation was detected and affected Oct-1 (repressor) binding site in an acute lymphoblastic leukemia patient |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | GFI1B is a proto-oncogenic transcriptional regulator required for development and differentiation of erythroid and megakaryocytic lineages. It is part of a RCOR-GFI-KDM1A-HDAC complex that can deacetylate and silence several genes implicated in multilineage blood cell development and hematopoietic differentiation. It may also cooperate with GATA1 to repress gene transcription such as the apoptosis regulator BCL2L1 - silencing in leukemic cell lines increased apoptosis. GFI1B can inhibit the down-regulation of Myc and Myb, as well as the CDK inhibitor CDKN1A/P21WAF1. A R231H mutation has been found in a colorectal cancer sample. |