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: | CYLD |
| Gene Name: | CYLD |
| Protein Full Name: | Ubiquitin carboxyl-terminal hydrolase CYLD |
| Alias: | CDMT; CYLD1; CYLDI; Cylindromatosis (turban tumor syndrome); Deubiquitinating enzyme CYLD; EAC; EC 3.1.2.15; Familial cylindromatosis gene; HSPC057; KIAA0849; Ubiquitin carboxyl-terminal hydrolase CYLD; Ubiquitin specific peptidase like 2; Ubiquitin thioesterase CYLD; Ubiquitin-specific-processing protease CYLD; USPL2 |
| Mass (Da): | 107316 |
| Number AA: | 956 |
| UniProt ID: | Q9NQC7 |
| Locus ID: | 1540 |
| COSMIC ID: | CYLD |
| Gene location on chromosome: | 16q12-13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 21393 |
| Percent of cancer specimens with mutations: | 1.05 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations across entire protein as well as 3 insertions and 2 deletions, but no complex mutations. |
| Mutations observed as inherited: | Hereditory: cylindromatosis. |
| Normal role description: | CYLD is a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a de-ubiquitinating enzyme. Mutations causing a decrease in activity could inhibit turnover of pro-growth/anti-apoptosis proteins. Mutations in this gene are associated with familial cylindromatosis, also called turban tumour syndrome, while the loss of this gene is associated with colon, live, kidney, cervix and prostate tumors. |
| Commentary on involvement of protein in cancer: | Protease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Has endodeubiquitinase activity. Plays an important role in the regulation of pathways leading to NF-kappa-B activation. Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation. Negative regulator of Wnt signaling. Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules. Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis. Required for normal cell cycle progress and normal cytokinesis. Inhibits nuclear translocation of NF-kappa-B. Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation. Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells. Negatively regulates TNFRSF11A signaling and osteoclastogenesis |