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: | MEN1 |
| Gene Name: | MEN1 |
| Protein Full Name: | Menin |
| Alias: | MEAI; multiple endocrine neoplasia I; multiple endocrine neoplasia type 1 gene; SCG2; Wermer syndrome; Zollinger-Ellison syndrome |
| Mass (Da): | 67993 |
| Number AA: | 615 |
| UniProt ID: | O00255 |
| Locus ID: | 4221 |
| COSMIC ID: | MEN1 |
| Gene location on chromosome: | 11q13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 23182 |
| Percent of cancer specimens with mutations: | 2.21 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations, insertions and deletions over entire protein length. |
| Mutations observed as inherited: | Multiple endocrine neoplasia type 1. |
| Normal role description: | Acts as transcription protein-repressor. Specifically represses JUND mediated transcriptional activation. MEN1 is a component of a histone methyltransferase complex, that methylates Lys-4 of histone H3. Plays a role in TGFB1-mediated inhibition of cell-proliferation. May regulate SMAD3 transcriptional activity. |