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: | SYNE1 |
| Gene Name: | SYNE1 |
| Protein Full Name: | Nesprin-1 |
| Alias: | 8B; C6orf98; CPG2; DJ45H2.2; Enaptin; KIAA0796; MYNE1; Myne-1; Myocyte nuclear envelope protein 1; Nesprin-1; Nuclear envelope spectrin repeat protein 1; Spectrin repeat containing, nuclear envelope 1; Synaptic nuclear envelope protein 1; Syne-1; SYNE-1B |
| Mass (Da): | 112393 |
| Number AA: | 982 |
| UniProt ID: | Q8NF91 |
| Locus ID: | 23345 |
| COSMIC ID: | SYNE1 |
| Gene location on chromosome: | 6q25.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | iNHIBITS |
| Number of cancer specimens: | 19951 |
| Percent of cancer specimens with mutations: | 7.03 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, two insertions and two deletions, but no complex mutants. |
| Gene undergoes hypermethylation: | Colorectal cancer |
| Normal role description: | SYNE1 is a multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. It is a component of SUN-protein-containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. It is involved in the maintenance of nuclear organization and structural integrity, and connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F-actin in the cytoplasm. It is required for centrosome migration to the apical cell surface during early ciliogenesis. Defects in SYNE1 are the cause of spinocerebellar ataxia autosomal recessive type 8; and of Emery-Dreifuss muscular dystrophy type 4. Promoter hypermethylation of the gene is seen in colorectal cancer. |
| Commentary on involvement of protein in cancer: | 9/468 (2%) CNS tumours; 100% of pharyngeal samples (frameshift deletion, non-sense, mis-sense and silent mutations); and 100% of laryngeal samples (mis-sense, non-sense, silent, and intronic substitutions) were also mutated (Sanger COSMIC) |