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: | NSD1 |
| Gene Name: | NSD1 |
| Protein Full Name: | Histone-lysine N-methyltransferase, H3 lysine-36 a |
| Alias: | Androgen receptor-associated coregulator 267; ARA267; FLJ22263; H3-K36-HMTase; H4-K20-HMTase; Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; KMT3B; NR-binding SET domain containing protein; Nuclear receptor binding SET domain containing protein 1; Nuclear receptor binding SET domain protein 1; SOTOS; Sotos syndrome; STO |
| Mass (Da): | 296652 |
| Number AA: | 2696 |
| UniProt ID: | Q96L73 |
| Locus ID: | 64324 |
| COSMIC ID: | NSD1 |
| Gene location on chromosome: | 5q35 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20691 |
| Percent of cancer specimens with mutations: | 1.86 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, 1 insertion and 1 deletion in the last half of the protein, with no complex mutations. |
| Deregulated in translocations: | Acute Non Lymphoblastic Leukemia. Fusion partners include NUP98 |
| Normal role description: | Transcription factor and transcription regulator |