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: | DLG1 |
| Gene Name: | DLG1 |
| Protein Full Name: | Disks large homolog 1 |
| Alias: | Discs large 1; Discs, large 1; Discs, large homolog 1; DJ1061C18.1.1; DLGH1; HDlg; Presynaptic protein SAP97; SAP97; SAP-97; Synapse-associated protein 97 |
| Mass (Da): | 100455 |
| Number AA: | 904 |
| UniProt ID: | Q12959 |
| Locus ID: | 1739 |
| COSMIC ID: | DLG1 |
| Gene location on chromosome: | 3q29 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19650 |
| Percent of cancer specimens with mutations: | 0.65 |
| Normal role description: | DLG1 is an essential adapter protein required for normal cell development. It is able to recruits channels, receptors and signalling molecules to discrete plasma membrane domains in polarized cells. It is involved in adherens junction formation, signal transduction , cell proliferation , synaptogenesis, lymphocyte activation, cell differentiation and migration, cellular apical-basal polarity control, and in the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. DLG1 defects have been implicated in 3q29 microdeletion syndrome and in schizophrenia. Expression of the gene is often lost in the late stages of many cancers. |