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: | SEC63 |
| Gene Name: | SEC63 |
| Protein Full Name: | Translocation protein SEC63 homolog |
| Alias: | ERdj2; PRO2507; SEC63L |
| Mass (Da): | 87997 |
| Number AA: | 760 |
| UniProt ID: | Q9UGP8 |
| Locus ID: | 11231 |
| COSMIC ID: | SEC63 |
| Gene location on chromosome: | 6q21 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19717 |
| Percent of cancer specimens with mutations: | 0.74 |
| Mutations observed as inherited: | Autosomal dominant polycystic liver disease |
| Normal role description: | SEC63 is an integral membrane protein located in the rough ER. It is part of the ribosome-free SEC61 complex - a central component of the protein translocation apparatus of the ER membrane, together with SEC61 and SEC62. The complex may also be involved in performing the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. Mutations in SEC63 have been identified as a possible cause of autosomal dominant polycystic liver disease, and the gene is inactivated due to mismatch repair defects in colon carcinomas. |