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: | SORL1 |
| Gene Name: | SORL1 |
| Protein Full Name: | Sortilin-related receptor |
| Alias: | C11orf32; Gp250; LDLR relative with 11 ligand-binding repeats; Low-density lipoprotein receptor relative with 11 ligand-binding repeats; LR11; LRP9; SORL; SorLA; SorLA-1; Sortilin-related receptor; Sortilin-related receptor, L (DLR class) A repeats-containing; Sorting protein-related receptor containing LDLR class A repeats |
| Mass (Da): | 248441 |
| Number AA: | 2214 |
| UniProt ID: | Q92673 |
| Locus ID: | 6653 |
| COSMIC ID: | SORL1 |
| Gene location on chromosome: | 11q23.2-q24.2 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19694 |
| Percent of cancer specimens with mutations: | 1.9 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with several point mutations, but no complex, insertion or deletion mutants. |
| Normal role description: | SORL1 is a putative transmembrane receptor which was found to bind low-density lipoproteins (LDL) and facilitate their uptake. SORL1 is primarily expressed in the CNS and loss of function of SORL1 has been implicated in the development of Alzheimer's. Predominantly mis-sense or loss of function mutations of SORL1 have been detected in various cancers. However, their exact functional role has not been well characterized. Interestingly few mutations of SORL1 have been implicated in CNS tumours. |
| Commentary on involvement of protein in cancer: | No entry in Atlasgeneticsoncology.org. Less than 3% mutation in CNS. |