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: | CDC73 |
| Gene Name: | CDC73 |
| Protein Full Name: | Parafibromin |
| Alias: | C1orf28; Cell division cycle 73; Cell division cycle 73, Paf1/RNA polymerase II complex component,; Cell division cycle protein 73 homologue; HRPT2; Hyperparathyroidism 2 protein |
| Mass (Da): | 60577 |
| Number AA: | 531 |
| UniProt ID: | Q6P1J9 |
| Locus ID: | 79577 |
| COSMIC ID: | CDC73 |
| Gene location on chromosome: | 1q25.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20788 |
| Percent of cancer specimens with mutations: | 0.99 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletions, 3 insertions and 1 set of complex mutations across the entire protein, but mostly at located between the N-terminus and AA 76. |
| Mutations observed as inherited: | Parathyroid tumours, jaw fibromas. |
| Normal role description: | HRPT2 (now known as CDC73) is a transcription factor that helps bind 3'mRNA proccessing factors with actively transcribed chromatin. CDC73 encodes for a member (Parafibromin) of the human RNA polymerase II-associated complex (Paf1). Interaction of Parafibromin with Paf1 is dependent on the C-Terminus, which is deleted in the majority of clinically relevant mutations. This protein is also implicated in cell-cycle progression through the regulation of cyclin D1/PRAD1 expression. Mutation in this gene have been linked to parathyroid carcinomas. |
| Commentary on involvement of protein in cancer: | Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. The function of the N-terminus is unclear. It might be involved with inhibition of CDC73. |