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: | CUBN |
Gene Name: | CUBN |
Protein Full Name: | Cubilin |
Alias: | 460 kDa receptor;Intestinal intrinsic factor receptor;Intrinsic factor-cobalamin receptor;Intrinsic factor-vitamin B12 receptor |
Mass (Da): | 398676 |
Number AA: | 3623 |
UniProt ID: | O60494 |
Locus ID: | 8029 |
COSMIC ID: | CUBN |
Gene location on chromosome: | 10p12.31 |
Cancer protein type: | UNCLEAR |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | UNCLEAR |
Number of cancer specimens: | 19813 |
Percent of cancer specimens with mutations: | 3.65 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with many several mutations, and 1 deletion, but no complex, or insertion mutants. |
Normal role description: | CUBN is a transmembrane receptor found in intestinal and kidney epithelium which facilitates the uptake of a variety of molecules including, proteins, lipoproteins, vitamins (Vitamin B12) and iron. CUBN has been found to associate with another transmembrane protein, amnionless (AMN) to form the cubam receptor. Within the receptor CUBN is thought to function as the ligand recognition protein while AMN is responsible for receptor mediated endocytosis of bound ligands. A multitude of mutations of CUBN have been observed in ovary, breast and throat cancers, however its exact role in cancer progression is relatively unknown. |
Commentary on involvement of protein in cancer: | Less than 3% mutations in CNS. |