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: | ERC1 |
| Gene Name: | ERC1 |
| Protein Full Name: | ELKS/Rab6-interacting/CAST family member 1 |
| Alias: | Cast2; Elks; Erc 1; Erc1; RAB6 interacting protein 2; RAB6-interacting protein 2; Rb6I2 |
| Mass (Da): | 128086 |
| Number AA: | 1116 |
| UniProt ID: | Q8IUD2 |
| Locus ID: | 23085 |
| COSMIC ID: | ERC1 |
| Gene location on chromosome: | 12p13.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20469 |
| Percent of cancer specimens with mutations: | 0.73 |
| Deregulated in translocations: | RET |
| Normal role description: | ELKS is part of the RIM-binding protein family. It is involved in reugulation of neurotransmitter release, recruiting IKappaBalpha/NFKBIA to IKK complex. Other possible roles are organization of cytomatrix at the nerver terminals active zone,vesicle trafficing of cytomatrix at the nerve terminals active zone and Rab-6 regulated endosome transport to the golgi. |