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: | PRDM1 |
Gene Name: | PRDM1 |
Protein Full Name: | PR domain zinc finger protein 1 |
Alias: | Beta-interferon gene positive- regulatory domain I binding factor; Beta-interferon gene positive regulatory domain I-binding factor; BLIMP1; Positive regulatory domain I-binding factor 1; PR domain containing 1, with ZNF domain; PR domain-containing protein 1; PRDI-BF1; PRDI-binding factor-1; PRDM1; PR-domain zinc finger protein 1 |
Mass (Da): | 87973 |
Number AA: | 789 |
UniProt ID: | O75626 |
Locus ID: | 639 |
COSMIC ID: | PRDM1 |
Gene location on chromosome: | 6q21 |
Cancer protein type: | OP/TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | MIXED |
Number of cancer specimens: | 20530 |
Percent of cancer specimens with mutations: | 1.25 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations, insertions and deletions over entire protein length. |
Normal role description: | PRDM1 is a nuclear localized transcriptional repressor. This protein is found to be site-specific and will promote transcriptional repression through recruitment of histone/lysine methyltransferases, demethylases and deacetylases. PRDM1 is specific to inhibition of beta-interferon expression. PRDM1 has important biological functions in promoting lymphocyte and leukocyte growth, differentiation and maintenance. Mutations of PRDM1 which led to inactivation of its repressional ability has been implicated in the development of lymphomas, leukemias and leukocyte neoplasms. Most mutations are deletions which lead to loss of activity. However PRDM1 is not a tumour supressor gene in myelomas and appears to promote plasma cell myeloma. |
Commentary on involvement of protein in cancer: | PRDM1 is usually a TSP, whereby loss of activity leads to cancer, however in the rare cause of plasma cell myelomas it can function as an oncogene. |